Pub Date : 2024-09-16DOI: 10.1186/s43054-024-00309-8
Murat Kangin, Asuman Akar, Mehmet Nur Talay, Ozlem Gul, Muhammed Tas, Ayten Semdinoglu, Caner Alparslan, Sevgen Tanir Basaranoglu, Nurhayat Yakut
Multisystem inflammatory syndrome in children (MIS-C) is one of the complications of SARS-CoV-2 infection. This study aims to evaluate the clinical and laboratory characteristics, as well as treatment results, of MIS-C patients who received intravenous immunoglobulin (IVIG) monotherapy. This retrospective study included patients diagnosed with MIS-C. Demographic data, organ involvements at the admission, laboratory evaluations for diagnosis, treatment, and follow-up were recorded. We evaluated outcomes by the length of the intensive care unit stay, the total hospitalization period, complications, and mortality. A total of 95 patients diagnosed with MIS-C were evaluated. The mean age was 118.8 (± 52.5) months. 76.8% of the patients had four or more organ systems involved. Seventy-nine patients (83%) were hospitalized in the pediatric intensive care unit (PICU) for a mean of 4.59 days. Seventy-seven (81%) patients received IVIG. A second dose of IVIG was administered to 66.3% of patients. All patients received vitamin D and C supplementation. Six patients who had cardiac involvement or cerebral infarction were treated with plasmapheresis. No patients received steroids. There was no mortality at the end of the follow-up. Favorable outcomes may be obtained with IVIG monotherapy in MIS-C patients. More clinical trials are needed to establish the role of supportive treatments like vitamin D and C in MIS-C management.
儿童多系统炎症综合征（MIS-C）是 SARS-CoV-2 感染的并发症之一。本研究旨在评估接受静脉注射免疫球蛋白（IVIG）单一疗法的儿童多系统炎症综合征患者的临床和实验室特征以及治疗效果。这项回顾性研究纳入了确诊为 MIS-C 的患者。研究记录了患者的人口统计学数据、入院时器官受累情况、实验室诊断评估、治疗和随访情况。我们根据重症监护室住院时间、总住院时间、并发症和死亡率对结果进行了评估。共对 95 名确诊为 MIS-C 的患者进行了评估。平均年龄为 118.8 (± 52.5) 个月。76.8%的患者涉及四个或更多器官系统。79名患者（83%）在儿科重症监护室（PICU）住院治疗，平均住院时间为4.59天。77名患者（81%）接受了 IVIG 治疗。66.3%的患者接受了第二剂 IVIG 治疗。所有患者都补充了维生素 D 和 C。六名心脏受累或脑梗塞患者接受了血浆置换治疗。没有患者接受类固醇治疗。随访结束时没有出现死亡病例。对 MIS-C 患者进行 IVIG 单药治疗可能会取得良好的疗效。需要进行更多的临床试验，以确定维生素 D 和 C 等辅助治疗在 MIS-C 治疗中的作用。
{"title":"Multisystem inflammatory syndrome in children treated with intravenous immunoglobulin monotherapy: a single-center retrospective study","authors":"Murat Kangin, Asuman Akar, Mehmet Nur Talay, Ozlem Gul, Muhammed Tas, Ayten Semdinoglu, Caner Alparslan, Sevgen Tanir Basaranoglu, Nurhayat Yakut","doi":"10.1186/s43054-024-00309-8","DOIUrl":"https://doi.org/10.1186/s43054-024-00309-8","url":null,"abstract":"Multisystem inflammatory syndrome in children (MIS-C) is one of the complications of SARS-CoV-2 infection. This study aims to evaluate the clinical and laboratory characteristics, as well as treatment results, of MIS-C patients who received intravenous immunoglobulin (IVIG) monotherapy. This retrospective study included patients diagnosed with MIS-C. Demographic data, organ involvements at the admission, laboratory evaluations for diagnosis, treatment, and follow-up were recorded. We evaluated outcomes by the length of the intensive care unit stay, the total hospitalization period, complications, and mortality. A total of 95 patients diagnosed with MIS-C were evaluated. The mean age was 118.8 (± 52.5) months. 76.8% of the patients had four or more organ systems involved. Seventy-nine patients (83%) were hospitalized in the pediatric intensive care unit (PICU) for a mean of 4.59 days. Seventy-seven (81%) patients received IVIG. A second dose of IVIG was administered to 66.3% of patients. All patients received vitamin D and C supplementation. Six patients who had cardiac involvement or cerebral infarction were treated with plasmapheresis. No patients received steroids. There was no mortality at the end of the follow-up. Favorable outcomes may be obtained with IVIG monotherapy in MIS-C patients. More clinical trials are needed to establish the role of supportive treatments like vitamin D and C in MIS-C management.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1186/s43054-024-00308-9
Diana Hanna, Mohamad Gamal Nada, Mahmoud M. Gohary
Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition associated with a distinctive brain imaging pattern which typically occur in some complex clinical conditions. However, the leading offender to this condition remains not clear. We report a 6-year-old female with β-thalassemia major presenting with generalized tonic–clonic convulsions, repeated attacks of projectile vomiting, blurred vision, and altered conscious level after blood transfusion. The brain magnetic resonance imaging (MRI) FLAIR sequence revealed bilateral and symmetrical subcortical edema displaying high signal intensity. Follow-up MRI 1 month later showed complete resolution of the previously identified findings. The clinical presentation along with neuroimaging pattern as well as the reversible course indicated PRES as the most suitable diagnosis. Although PRES has been previously described in different clinical settings, this is a rare case of PRES recognized after blood transfusion in a child with β-thalassemia major. Acute neurological symptoms in children with thalassemia should raise high suspicion for PRES, especially after blood transfusion.
{"title":"Posterior reversible encephalopathy syndrome in a known case of beta-thalassemia major after blood transfusion: a case presentation","authors":"Diana Hanna, Mohamad Gamal Nada, Mahmoud M. Gohary","doi":"10.1186/s43054-024-00308-9","DOIUrl":"https://doi.org/10.1186/s43054-024-00308-9","url":null,"abstract":"Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic condition associated with a distinctive brain imaging pattern which typically occur in some complex clinical conditions. However, the leading offender to this condition remains not clear. We report a 6-year-old female with β-thalassemia major presenting with generalized tonic–clonic convulsions, repeated attacks of projectile vomiting, blurred vision, and altered conscious level after blood transfusion. The brain magnetic resonance imaging (MRI) FLAIR sequence revealed bilateral and symmetrical subcortical edema displaying high signal intensity. Follow-up MRI 1 month later showed complete resolution of the previously identified findings. The clinical presentation along with neuroimaging pattern as well as the reversible course indicated PRES as the most suitable diagnosis. Although PRES has been previously described in different clinical settings, this is a rare case of PRES recognized after blood transfusion in a child with β-thalassemia major. Acute neurological symptoms in children with thalassemia should raise high suspicion for PRES, especially after blood transfusion.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142223718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-09DOI: 10.1186/s43054-024-00299-7
Bahia Moustafa, Neveen A. Soliman, Ahmed Badr, Mohamad K. EL-Hatw, Engy A. Mogahed, Mona El Ghamrawy, Noha Shaheen, Khaled M. ElKhashab, Mohamed G. Shouman, Abeer Selim, Sawsan Moselhy, Dina E. Sallam, Magdy El-Sharkawy, Tarek A. AbdelAzim, Mohamad Esmat, Nanies Soliman, Mostafa Baraka, Bedeir Ali-El-Dein, Muhammed Ahmed Elhadedy, Moatasem Elsayed Ghoneim, Mai S. Korkor, Tarek Omar, Yasser S. Amer, Ashraf Abdel Baky
Kidney transplantation for chronic kidney disease (CKD) in children is the best treatment option. It needs special medical and surgical expertise highly skilled in management of pediatric age group. Our Egyptian profile for causes of end-stage renal failure (ESRF) in transplanted children reflects prevalence of inherited kidney diseases IKD (43%), urologic causes (26%), glomerulonephritis (GN) (17%), and unknown causes (14%). Renal graft availability remains a great challenge. We need pediatric kidney transplantation (PKT) guideline since children have unique causes for ESRF compared to adults. Their transplant team should be skilled in management of children challenges. Recipients may not have one transplant per life. Long-standing immunosuppression will have its toxicity and need regular monitoring. Lots of data are extracted from adult guidelines lacking paediatric background. Young paediatric nephrologists need short version guidelines rich in educational figures for management plans. Children and their families need Arabic orientation booklets and supportive programmes. National Insurance System sponsors should be guided by National Pediatric Guidelines to minimize the centre’s variations. Our National Pediatric Guidelines are evidence based adapted from international four source guidelines with permissions [KDIGO-2020, RA/BTS 2022-2018, EAU 2018] that were appraised with Agree 2 plus tool using PIPOH format health questions. We followed the ‘adapted ADAPTE’ CPG formal adaptation methodology that consists of three phases and 24 steps and tools. It was registered on the practice guideline registration international guideline registry with a registration number IPGRP-2023-12-27 CN 312. Summary includes recommendations for assessment of (1) potential living adult donors for age, medical, surgical, immunologic, familial, metabolic, malignancy, and any donor morbidities and (2) transplant recipient assessment for age, weight, nutritional, psychosocial, immunological, infection states, primary native kidney disease, associated morbidities, the presence of genetic, immunologic, infection, and malignancy risks. Pediatric kidney transplantation guidelines aim for better donor, recipient, and graft survival. Recommendations are tailored as adopted or adapted statements from evidence-based source guidelines to suit our local pediatric CKD profile.
{"title":"Egyptian paediatric kidney transplantation pre-transplant guidance highlights on donor and recipient assessment (R. N. 364)","authors":"Bahia Moustafa, Neveen A. Soliman, Ahmed Badr, Mohamad K. EL-Hatw, Engy A. Mogahed, Mona El Ghamrawy, Noha Shaheen, Khaled M. ElKhashab, Mohamed G. Shouman, Abeer Selim, Sawsan Moselhy, Dina E. Sallam, Magdy El-Sharkawy, Tarek A. AbdelAzim, Mohamad Esmat, Nanies Soliman, Mostafa Baraka, Bedeir Ali-El-Dein, Muhammed Ahmed Elhadedy, Moatasem Elsayed Ghoneim, Mai S. Korkor, Tarek Omar, Yasser S. Amer, Ashraf Abdel Baky","doi":"10.1186/s43054-024-00299-7","DOIUrl":"https://doi.org/10.1186/s43054-024-00299-7","url":null,"abstract":"Kidney transplantation for chronic kidney disease (CKD) in children is the best treatment option. It needs special medical and surgical expertise highly skilled in management of pediatric age group. Our Egyptian profile for causes of end-stage renal failure (ESRF) in transplanted children reflects prevalence of inherited kidney diseases IKD (43%), urologic causes (26%), glomerulonephritis (GN) (17%), and unknown causes (14%). Renal graft availability remains a great challenge. We need pediatric kidney transplantation (PKT) guideline since children have unique causes for ESRF compared to adults. Their transplant team should be skilled in management of children challenges. Recipients may not have one transplant per life. Long-standing immunosuppression will have its toxicity and need regular monitoring. Lots of data are extracted from adult guidelines lacking paediatric background. Young paediatric nephrologists need short version guidelines rich in educational figures for management plans. Children and their families need Arabic orientation booklets and supportive programmes. National Insurance System sponsors should be guided by National Pediatric Guidelines to minimize the centre’s variations. Our National Pediatric Guidelines are evidence based adapted from international four source guidelines with permissions [KDIGO-2020, RA/BTS 2022-2018, EAU 2018] that were appraised with Agree 2 plus tool using PIPOH format health questions. We followed the ‘adapted ADAPTE’ CPG formal adaptation methodology that consists of three phases and 24 steps and tools. It was registered on the practice guideline registration international guideline registry with a registration number IPGRP-2023-12-27 CN 312. Summary includes recommendations for assessment of (1) potential living adult donors for age, medical, surgical, immunologic, familial, metabolic, malignancy, and any donor morbidities and (2) transplant recipient assessment for age, weight, nutritional, psychosocial, immunological, infection states, primary native kidney disease, associated morbidities, the presence of genetic, immunologic, infection, and malignancy risks. Pediatric kidney transplantation guidelines aim for better donor, recipient, and graft survival. Recommendations are tailored as adopted or adapted statements from evidence-based source guidelines to suit our local pediatric CKD profile.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bronchial asthma (BA) is a chronic inflammatory disorder identified by different endotypes and phenotypes. Chemokine receptor 3 (CCR3) is one of the essential chemokine receptors that have a crucial role in asthma development by activating the migration of eosinophils through eotaxin production. We aimed to determine asthma prevalence among school children and to investigate the association between CCR3-T51C gene polymorphisms and the symptom-based clinical asthma phenotypes. This study employed a hybrid design, conducted at a single center in Egypt from 2020 to 2021, to explore the relationship between asthma, its clinical phenotypes, and the CCR3-T51C gene polymorphism. Initially, a cross-sectional analysis was performed, utilizing a modified version of the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire to determine the prevalence of asthma in a cohort of 60 children, who presented with diverse clinical phenotypes, alongside 100 healthy controls. Subsequently, in the case–control phase of the study, we focused on examining the association between asthma (and its clinical phenotypes) and the CCR3-T51C gene polymorphism. For both groups, serum immunoglobulin E (IgE) levels and eosinophil counts were assessed, and the genotypes and alleles of the CCR3-T51C gene polymorphism were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique. A total of 600 children aged (6 to 16 years old) were enrolled. Out of these, 72 children (12%) were diagnosed with bronchial asthma in the basic education schools in El Manzala City, Egypt. Also, 72 (12%) of the studied children had wheezes, and 48 (8%) had night cough. Children with asthma had significantly higher relative eosinophil count and serum IgE levels than the control group. In terms of CCR3-T51C genotypes analysis, the TT genotype was the most prevalent in both patient and control groups, with 63.3% and 64%, respectively, but the difference was not statistically significant (P > 0.05). Also, there were no significant associations between CCR3-T51C genotypes and laboratory biomarkers among cough, wheezy, and cough and wheezy groups, except for the CT genotype in the cough group that had a lower eosinophil count than the wheezy group (P = 0.04). Asthma affects 12% of the school-aged children. The CCR3-T51C genotype or allelic polymorphism frequency did not differ between asthmatics and controls; however, the TT genotype was more frequent in asthmatic children. Eosinophil count, serum IgE and gene polymorphism of CCR3-T51C appeared similar among different asthmatic phenotypes.
{"title":"Prevalence and CCR3-T51C genotype–phenotype correlation of bronchial asthma among basic education school children: an observational study","authors":"Magdy Zedan, Mona Elwassefy, Ismail El Zareif, Hossam ElTahan, Yahya Wahba","doi":"10.1186/s43054-024-00306-x","DOIUrl":"https://doi.org/10.1186/s43054-024-00306-x","url":null,"abstract":"Bronchial asthma (BA) is a chronic inflammatory disorder identified by different endotypes and phenotypes. Chemokine receptor 3 (CCR3) is one of the essential chemokine receptors that have a crucial role in asthma development by activating the migration of eosinophils through eotaxin production. We aimed to determine asthma prevalence among school children and to investigate the association between CCR3-T51C gene polymorphisms and the symptom-based clinical asthma phenotypes. This study employed a hybrid design, conducted at a single center in Egypt from 2020 to 2021, to explore the relationship between asthma, its clinical phenotypes, and the CCR3-T51C gene polymorphism. Initially, a cross-sectional analysis was performed, utilizing a modified version of the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire to determine the prevalence of asthma in a cohort of 60 children, who presented with diverse clinical phenotypes, alongside 100 healthy controls. Subsequently, in the case–control phase of the study, we focused on examining the association between asthma (and its clinical phenotypes) and the CCR3-T51C gene polymorphism. For both groups, serum immunoglobulin E (IgE) levels and eosinophil counts were assessed, and the genotypes and alleles of the CCR3-T51C gene polymorphism were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique. A total of 600 children aged (6 to 16 years old) were enrolled. Out of these, 72 children (12%) were diagnosed with bronchial asthma in the basic education schools in El Manzala City, Egypt. Also, 72 (12%) of the studied children had wheezes, and 48 (8%) had night cough. Children with asthma had significantly higher relative eosinophil count and serum IgE levels than the control group. In terms of CCR3-T51C genotypes analysis, the TT genotype was the most prevalent in both patient and control groups, with 63.3% and 64%, respectively, but the difference was not statistically significant (P > 0.05). Also, there were no significant associations between CCR3-T51C genotypes and laboratory biomarkers among cough, wheezy, and cough and wheezy groups, except for the CT genotype in the cough group that had a lower eosinophil count than the wheezy group (P = 0.04). Asthma affects 12% of the school-aged children. The CCR3-T51C genotype or allelic polymorphism frequency did not differ between asthmatics and controls; however, the TT genotype was more frequent in asthmatic children. Eosinophil count, serum IgE and gene polymorphism of CCR3-T51C appeared similar among different asthmatic phenotypes.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02DOI: 10.1186/s43054-024-00307-w
Walaa Shoman, Ashraf Galal, Arwa Mahmoud Elshishiny, Eman Hamza
Fever of unknown origin (FUO) is a common condition worldwide in children that remains a diagnostic challenge. The causes of FUO vary depending on the patient's age, residency, and the time of study. Therefore, this study aimed to identify the common aetiologies of FUO at Alexandria University Children’s Hospital under the current diagnostic abilities and newly emerging diseases. The current prospective observational study included all children fulfilling the definition of FUO admitted at Alexandria University Children's Hospital from January 2020 to December 2021 using a steps approach for investigations. A total of 110 children with fever of unknown origin (FUO) were included in this study; the average duration of fever was 36.76 ± 31.73 days. In most of the enrolled cases 105/110 (95.4%) the definite etiology of FUO was identified. The common causes were collagen vascular diseases (30.9%), infectious diseases (28.2%), miscellaneous conditions (19.1%), and malignancy (17.3%). Among collagen vascular diseases, systemic lupus erythematosus (SLE) (47.1%) and systemic onset juvenile idiopathic arthritis (sJIA) (38.2%) were the most common. In the infectious category, Katayama fever (16.1%), brucellosis (12.9%), and urinary tract infection (UTI) (12.9%) were the most frequently observed. Post-Covid MIS-C (52.4%) was the most common in the miscellaneous category. Children in the infectious category had significantly higher neutrophil [5.76 (2.28–7.92) × 10^3/µl] and lymphocytic counts [ 4.2 (2.04–5.91) × 10^3/µl]; (P < 0.001 and < 0.010 respectively). Moreover, in the collagen category the median lymphocytic count was lower [1.95 (1.47–2.73) × 10^3/µl] with a significantly (P < 0.010) higher neutrophil/ lymphocyte ratio [2.30 (1.53–3.91)]. Collagen vascular diseases, infectious diseases, miscellaneous, and malignancy were the most common causes of FUO. Katayama fever, urinary tract infections (UTI), and brucellosis were the most common causes in the infectious category. Post-Covid MIS-C and hemophagocytic lymphohistiocytosis were the most common diagnoses in the miscellaneous category.
{"title":"Fever of unknown origin in pediatrics: causes and clinical characteristics in a single centre experience","authors":"Walaa Shoman, Ashraf Galal, Arwa Mahmoud Elshishiny, Eman Hamza","doi":"10.1186/s43054-024-00307-w","DOIUrl":"https://doi.org/10.1186/s43054-024-00307-w","url":null,"abstract":"Fever of unknown origin (FUO) is a common condition worldwide in children that remains a diagnostic challenge. The causes of FUO vary depending on the patient's age, residency, and the time of study. Therefore, this study aimed to identify the common aetiologies of FUO at Alexandria University Children’s Hospital under the current diagnostic abilities and newly emerging diseases. The current prospective observational study included all children fulfilling the definition of FUO admitted at Alexandria University Children's Hospital from January 2020 to December 2021 using a steps approach for investigations. A total of 110 children with fever of unknown origin (FUO) were included in this study; the average duration of fever was 36.76 ± 31.73 days. In most of the enrolled cases 105/110 (95.4%) the definite etiology of FUO was identified. The common causes were collagen vascular diseases (30.9%), infectious diseases (28.2%), miscellaneous conditions (19.1%), and malignancy (17.3%). Among collagen vascular diseases, systemic lupus erythematosus (SLE) (47.1%) and systemic onset juvenile idiopathic arthritis (sJIA) (38.2%) were the most common. In the infectious category, Katayama fever (16.1%), brucellosis (12.9%), and urinary tract infection (UTI) (12.9%) were the most frequently observed. Post-Covid MIS-C (52.4%) was the most common in the miscellaneous category. Children in the infectious category had significantly higher neutrophil [5.76 (2.28–7.92) × 10^3/µl] and lymphocytic counts [ 4.2 (2.04–5.91) × 10^3/µl]; (P < 0.001 and < 0.010 respectively). Moreover, in the collagen category the median lymphocytic count was lower [1.95 (1.47–2.73) × 10^3/µl] with a significantly (P < 0.010) higher neutrophil/ lymphocyte ratio [2.30 (1.53–3.91)]. Collagen vascular diseases, infectious diseases, miscellaneous, and malignancy were the most common causes of FUO. Katayama fever, urinary tract infections (UTI), and brucellosis were the most common causes in the infectious category. Post-Covid MIS-C and hemophagocytic lymphohistiocytosis were the most common diagnoses in the miscellaneous category.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-30DOI: 10.1186/s43054-024-00302-1
Sankalp Sharma, Phalguni Padhi
Demographic and biochemical variations in newborn children as compared to adults are attributable to variable prognosis to blood transfusions. Aims of this mixed cohort study of Platelets with/without Plasma (PLT/PZ); only Plasma (PZ) transfusions in ≤ 24 months children is as follows: An Association of demography towards hospital mortality, and an association of laboratory investigations (LI) with hospital mortality. PLT/PZ (n = 72) and PZ (n = 79) children ≤ 24 months were followed up for a total length of hospital stay (LOS(D)). We calculated the Odds Ratio (OR) of demographic, and laboratory parameters for mortality, survival studies of demographic, laboratory parameters , Kaplan Meier Survival curve, Log-Rank significance (KMLR) and Multivariable regression (r2) with outcome as death. The present study is in 2019–2022. Higher OR for hospital-based mortality for PLT/PZ and PZ cohort were age ≤ 1 m, weight ≤ 1500 g, preterm, gestational age ≤ 34 weeks, hospital length of stay {LOS(D)} 0–7 days, APGAR score ≤ 5, and Hb ≤ 7 g/dl. High OR, mortality was observed with Female gender, Length of stay before first transfusion {LOS(F)}, 0-7d, WHO Grade of bleeding (GOB) 4, PT>50 sec, INR>1·7, aPTT >75sec, PLT counts (μl) ≤25000/μl (PLT/PZ) and GOB 3, 4 (PZ). Higher OR for mortality was also observed with a lower derangement of coagulative parameters PT≤50s, INR ≤1·7, aPTT ≤75s (PZ). Higher survival was observed for (PLT/PZ) LOS(F) 0–7 days across age (m), weight (g) (P = 0·002; < 0·01), and INR ≤ 1·7; aPTT ≤ 75 s across LOS(D) (P < 0·01,0·018); (PZ) LOS(D) ≤ 7 days across age (m) and weight (g) (P = 0·036, 0·001); and GOB across LOS(D) (PLT/PZ; PZ) (P = 0·052, 0·005). Demography (PLT/PZ) r2 = 50·36% (P = 0·021), laboratory investigations r2 = 10·44% (P = 0·47), LOS(F) (P = 0·010), LOS(D) (P = 0·003), and GOB (P = 0·03) were the predictors. Demography (PZ) r2 (P = 0·095), investigations r2 = 8·79% (P = 0·254), LOS(D) (P = 0·026), and GOB (P = 0·012) were the predictors. PLT/PZ, demographic parameters, were significant cause of mortality with LOS(F), LOS(D), and GOB as predictors. PZ, demography attributed to mortality with LOS(D), and GOB as predictors. A higher OR of morality with lower derangement of laboratory profile is indicative of unnecessary transfusions in the age group. Laboratory investigations by themselves are not significant predictors of mortality.
{"title":"Pediatric demographic association with hospital mortality in platelets- and plasma-transfused young pediatric patients — a mixed cohort study","authors":"Sankalp Sharma, Phalguni Padhi","doi":"10.1186/s43054-024-00302-1","DOIUrl":"https://doi.org/10.1186/s43054-024-00302-1","url":null,"abstract":"Demographic and biochemical variations in newborn children as compared to adults are attributable to variable prognosis to blood transfusions. Aims of this mixed cohort study of Platelets with/without Plasma (PLT/PZ); only Plasma (PZ) transfusions in ≤ 24 months children is as follows: An Association of demography towards hospital mortality, and an association of laboratory investigations (LI) with hospital mortality. PLT/PZ (n = 72) and PZ (n = 79) children ≤ 24 months were followed up for a total length of hospital stay (LOS(D)). We calculated the Odds Ratio (OR) of demographic, and laboratory parameters for mortality, survival studies of demographic, laboratory parameters , Kaplan Meier Survival curve, Log-Rank significance (KMLR) and Multivariable regression (r2) with outcome as death. The present study is in 2019–2022. Higher OR for hospital-based mortality for PLT/PZ and PZ cohort were age ≤ 1 m, weight ≤ 1500 g, preterm, gestational age ≤ 34 weeks, hospital length of stay {LOS(D)} 0–7 days, APGAR score ≤ 5, and Hb ≤ 7 g/dl. High OR, mortality was observed with Female gender, Length of stay before first transfusion {LOS(F)}, 0-7d, WHO Grade of bleeding (GOB) 4, PT>50 sec, INR>1·7, aPTT >75sec, PLT counts (μl) ≤25000/μl (PLT/PZ) and GOB 3, 4 (PZ). Higher OR for mortality was also observed with a lower derangement of coagulative parameters PT≤50s, INR ≤1·7, aPTT ≤75s (PZ). Higher survival was observed for (PLT/PZ) LOS(F) 0–7 days across age (m), weight (g) (P = 0·002; < 0·01), and INR ≤ 1·7; aPTT ≤ 75 s across LOS(D) (P < 0·01,0·018); (PZ) LOS(D) ≤ 7 days across age (m) and weight (g) (P = 0·036, 0·001); and GOB across LOS(D) (PLT/PZ; PZ) (P = 0·052, 0·005). Demography (PLT/PZ) r2 = 50·36% (P = 0·021), laboratory investigations r2 = 10·44% (P = 0·47), LOS(F) (P = 0·010), LOS(D) (P = 0·003), and GOB (P = 0·03) were the predictors. Demography (PZ) r2 (P = 0·095), investigations r2 = 8·79% (P = 0·254), LOS(D) (P = 0·026), and GOB (P = 0·012) were the predictors. PLT/PZ, demographic parameters, were significant cause of mortality with LOS(F), LOS(D), and GOB as predictors. PZ, demography attributed to mortality with LOS(D), and GOB as predictors. A higher OR of morality with lower derangement of laboratory profile is indicative of unnecessary transfusions in the age group. Laboratory investigations by themselves are not significant predictors of mortality.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-26DOI: 10.1186/s43054-024-00300-3
Syarif Rohimi, Bambang Budi Siswanto, Muchtaruddin Mansyur, Djajadiman Gatot, Ina Sutanto, Jacub Pandelaki, Amiliana M. Soesanto, Teddy Ontoseno
Cardiac iron overload is a common cause of death in thalassemia major and is associated with hepcidin, which is primary iron homeostasis. Therapeutics that could increase hepcidin levels or act as hepcidin agonists might help treat the abnormal iron absorption in individuals with β-thalassemia and related disorders. We aimed to verify the structure and study the relationship of release variables, hepcidin, cardiac iron overload, or fibrosis. A cross-sectional study was conducted among thalassemia majors, aged 6–18 years at Rumah Sakit Anak dan Bunda Harapan Kita Indonesia, between January 2019 and May 2020. Clinical data, hepcidin-25, interacting variables laboratory test, MRIT2* used to assess cardiac iron overload, late gadolinium enhancement (LGE), and soluble suppression of tumoregenicity2 (ST2) to assess fibrosis were studied. The correlation test was performed with SPSS version 20, Amos 22 was used to assess confirmatory factor analysis (CFA), and squared multiple correlation (SMC) was used to determine the proportion of total variation explained by the model. We recruited 80 patients, of those 8 (10%) were cardiac iron overload, 5 (5.25%) were fibrosis, and 3 (3,75%) were ST2 > 35 mg/dL. CFA showed variables that interact with hepcidin release were Hb, reticulocyte-He (Re-He), HIF-1α, Immature granulocyte (IG), hs-CRP, IL-6, ferritin, and transferrin saturation. There was no direct hepcidin role in cardiac iron overload and fibrosis. No interacting variable role on hepcidin. SMC of hepcidin on cardiac iron overload was 20%. Factor analysis of hepcidin was Hb, Ret-He, HIF-1α, IG, hs-CRP, IL-6, ferritin, and transferrin saturation. No direct hepcidin role in cardiac iron overload and fibrosis. Hepcidin explains approximately 20% of the total variation in cardiac iron overload.
心脏铁负荷过重是重型地中海贫血症患者的常见死因，这与血红素有关，而血红素是铁平衡的主要物质。能提高血红素水平或作为血红素激动剂的治疗药物可能有助于治疗β地中海贫血及相关疾病患者的铁吸收异常。我们的目的是验证释放变量、血钙素、心脏铁负荷过重或纤维化的结构并研究它们之间的关系。我们于2019年1月至2020年5月期间在印度尼西亚Rumah Sakit Anak dan Bunda Harapan Kita对6-18岁的地中海贫血患者进行了横断面研究。研究对象包括临床数据、肝素-25、交互变量实验室测试、用于评估心脏铁超载的MRIT2*、晚期钆增强（LGE）和用于评估纤维化的可溶性抑制肿瘤基因2（ST2）。用 SPSS 20 版进行相关性检验，用 Amos 22 评估确证因子分析（CFA），用平方多重相关性（SMC）确定模型解释的总变异比例。我们招募了 80 名患者，其中 8 人（10%）为心脏铁负荷过重，5 人（5.25%）为纤维化，3 人（3.75%）ST2 > 35 mg/dL。CFA显示，与肝素释放相关的变量包括血红蛋白、网状细胞-He（Re-He）、HIF-1α、未成熟粒细胞（IG）、hs-CRP、IL-6、铁蛋白和转铁蛋白饱和度。血红素在心脏铁负荷过重和纤维化中没有直接作用。肝磷脂没有相互作用的变量。血钙素对心脏铁负荷过重的SMC为20%。血红蛋白的因子分析包括血红蛋白、Ret-He、HIF-1α、IG、hs-CRP、IL-6、铁蛋白和转铁蛋白饱和度。肝素在心脏铁负荷过重和纤维化中没有直接作用。肝素可解释心脏铁负荷过重总变化的约 20%。
{"title":"Factor analysis of hepcidin on cardiac iron overload and fibrosis among thalassemia major children","authors":"Syarif Rohimi, Bambang Budi Siswanto, Muchtaruddin Mansyur, Djajadiman Gatot, Ina Sutanto, Jacub Pandelaki, Amiliana M. Soesanto, Teddy Ontoseno","doi":"10.1186/s43054-024-00300-3","DOIUrl":"https://doi.org/10.1186/s43054-024-00300-3","url":null,"abstract":"Cardiac iron overload is a common cause of death in thalassemia major and is associated with hepcidin, which is primary iron homeostasis. Therapeutics that could increase hepcidin levels or act as hepcidin agonists might help treat the abnormal iron absorption in individuals with β-thalassemia and related disorders. We aimed to verify the structure and study the relationship of release variables, hepcidin, cardiac iron overload, or fibrosis. A cross-sectional study was conducted among thalassemia majors, aged 6–18 years at Rumah Sakit Anak dan Bunda Harapan Kita Indonesia, between January 2019 and May 2020. Clinical data, hepcidin-25, interacting variables laboratory test, MRIT2* used to assess cardiac iron overload, late gadolinium enhancement (LGE), and soluble suppression of tumoregenicity2 (ST2) to assess fibrosis were studied. The correlation test was performed with SPSS version 20, Amos 22 was used to assess confirmatory factor analysis (CFA), and squared multiple correlation (SMC) was used to determine the proportion of total variation explained by the model. We recruited 80 patients, of those 8 (10%) were cardiac iron overload, 5 (5.25%) were fibrosis, and 3 (3,75%) were ST2 > 35 mg/dL. CFA showed variables that interact with hepcidin release were Hb, reticulocyte-He (Re-He), HIF-1α, Immature granulocyte (IG), hs-CRP, IL-6, ferritin, and transferrin saturation. There was no direct hepcidin role in cardiac iron overload and fibrosis. No interacting variable role on hepcidin. SMC of hepcidin on cardiac iron overload was 20%. Factor analysis of hepcidin was Hb, Ret-He, HIF-1α, IG, hs-CRP, IL-6, ferritin, and transferrin saturation. No direct hepcidin role in cardiac iron overload and fibrosis. Hepcidin explains approximately 20% of the total variation in cardiac iron overload.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-22DOI: 10.1186/s43054-024-00305-y
Marie N. Engels, Britta Lüken-Darius, Christina Oetzmann von Sochaczewski, Andreas C. Heydweiller
Intraoperative use of methylene blue has been shown to reduce postoperative complications and recurrence rates in adults. It has however not been assessed if these beneficial effects would also apply to pediatric pilonidal sinus disease with its high recurrence rates. We, therefore, aimed to assess its effects on complications and recurrences in our retrospective exploratory cohort study. Of 55 consecutive children treated in our centre between January 2009 and December 2020, 48 were retrospectively included. We used logistic regression with a priori chosen predictors of intraoperative use of blue dyes, previous surgery for pilonidal sinus disease, and the presence of comorbidities on the composite outcome of complications and recurrence. Cramér’s V was used to explore associations between the use of blue dyes and the extent of resection. The median age in our cohort was 15.3 years. Five patients were below 2 years of age, and 24 (50%) of them were males. Chronic diseases were present in 13 (27%) patients, eight had previously been operated on for pilonidal sinus disease, and blue dyes were used in 34 patients (71%). Their intraoperative use was linked to the composite outcome with an odds ratio of 5.41 (95% confidence interval (CI) 1.52–25.34, P = 0.017) as were comorbidities with an odds ratio of 1.86 (95% CI 1.18–3.25, P = 0.014), but not re-do surgery (odds ratio 2.94 (95% CI 0.37 23.42, P = 0.3)). The use of blue dyes was associated with larger resections (Cramér’s V 0.556 (95% CI 0.329–0.74)). The intraoperative use of blue dyes was negatively associated with complications and recurrences in pediatric pilonidal sinus disease. However, if blue dyes were used, the extent of resection was also larger. Larger resections had been shown before to be associated with complications and recurrences, too. This potential interaction requires further elucidation in future studies.
事实证明，术中使用亚甲蓝可以减少成人的术后并发症和复发率。然而，这些有益效果是否也适用于复发率较高的小儿朝天鼻窦疾病，目前尚未进行评估。因此，我们在回顾性探索性队列研究中评估了该疗法对并发症和复发的影响。在 2009 年 1 月至 2020 年 12 月期间，我们中心连续收治了 55 名患儿，其中 48 名被纳入回顾性研究。我们采用了逻辑回归法，并预先选择了术中使用蓝色染料、曾接受过朝天鼻窦疾病手术以及是否存在并发症和复发等综合结果的预测因素。Cramér's V用于探讨蓝色染料的使用与切除范围之间的关系。我们队列中的中位年龄为 15.3 岁。5名患者年龄小于2岁，其中24人（50%）为男性。13名患者（27%）患有慢性疾病，8名患者曾因朝天鼻窦疾病接受过手术，34名患者（71%）使用了蓝色染料。术中使用蓝色染料与综合结果相关的几率比为 5.41（95% 置信区间 (CI) 1.52-25.34，P = 0.017），与合并症相关的几率比为 1.86（95% CI 1.18-3.25，P = 0.014），但与再次手术无关（几率比为 2.94（95% CI 0.37-23.42，P = 0.3））。使用蓝色染料与较大的切除范围有关（Cramér's V 0.556 (95% CI 0.329-0.74)）。术中使用蓝色染料与小儿朝天鼻窦疾病的并发症和复发呈负相关。不过，如果使用蓝色染料，切除范围也会更大。以前曾有研究表明，较大的切除范围也与并发症和复发有关。这种潜在的相互作用需要在今后的研究中进一步阐明。
{"title":"The effects of intraoperative use of blue dyes in pediatric pilonidal sinus disease—a retrospective exploratory cohort study","authors":"Marie N. Engels, Britta Lüken-Darius, Christina Oetzmann von Sochaczewski, Andreas C. Heydweiller","doi":"10.1186/s43054-024-00305-y","DOIUrl":"https://doi.org/10.1186/s43054-024-00305-y","url":null,"abstract":"Intraoperative use of methylene blue has been shown to reduce postoperative complications and recurrence rates in adults. It has however not been assessed if these beneficial effects would also apply to pediatric pilonidal sinus disease with its high recurrence rates. We, therefore, aimed to assess its effects on complications and recurrences in our retrospective exploratory cohort study. Of 55 consecutive children treated in our centre between January 2009 and December 2020, 48 were retrospectively included. We used logistic regression with a priori chosen predictors of intraoperative use of blue dyes, previous surgery for pilonidal sinus disease, and the presence of comorbidities on the composite outcome of complications and recurrence. Cramér’s V was used to explore associations between the use of blue dyes and the extent of resection. The median age in our cohort was 15.3 years. Five patients were below 2 years of age, and 24 (50%) of them were males. Chronic diseases were present in 13 (27%) patients, eight had previously been operated on for pilonidal sinus disease, and blue dyes were used in 34 patients (71%). Their intraoperative use was linked to the composite outcome with an odds ratio of 5.41 (95% confidence interval (CI) 1.52–25.34, P = 0.017) as were comorbidities with an odds ratio of 1.86 (95% CI 1.18–3.25, P = 0.014), but not re-do surgery (odds ratio 2.94 (95% CI 0.37 23.42, P = 0.3)). The use of blue dyes was associated with larger resections (Cramér’s V 0.556 (95% CI 0.329–0.74)). The intraoperative use of blue dyes was negatively associated with complications and recurrences in pediatric pilonidal sinus disease. However, if blue dyes were used, the extent of resection was also larger. Larger resections had been shown before to be associated with complications and recurrences, too. This potential interaction requires further elucidation in future studies.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Air pollution causes many respiratory disorders, especially in children and the elderly. These disorders include asthma exacerbations, bronchiolitis, and pneumonia. Research on the association between air pollution and respiratory disorders helps to reevaluate environmental policies in developing countries. This descriptive cross-sectional study was conducted on 932 children with respiratory manifestations admitted from December 2017 to December 2019 at the Emergency Department of Akbar Children’s Hospital of Mashhad University of Medical Sciences, Mashhad, Iran. Air pollution indices such as concentration of sulfur dioxide (SO2), nitrogen dioxide (NO2), carbon monoxide (CO), and particulate matter (PM) smaller than 2.5 and 10 μm and other parameters, including the air quality index (AQI), air temperature, and humidity level from 2017 to 2019, were retrieved from Mashhad Environmental Pollution Monitoring Center. Demographic and clinical data of patients were collected from patients’ hospital documents. We used descriptive analytical methods such as central tendency, variability, and frequency distribution to report and analyze demographic and clinical data through tables and diagrams. The association between air pollution indices and respiratory manifestations was examined by the Spearman correlation test. The correlation between the AQI and total hospital admissions and asthma-related hospital admissions was also evaluated by the Spearman correlation test. Hospital admissions due to respiratory manifestations were not associated with the AQI of each month (p-value = 0.794). The concentration of SO2 was correlated with respiratory-related hospital admissions (correlation coefficient = 0.487, p-value = 0.016) but not asthma attacks. Generally, our cross-sectional study showed no statistically considerable association between air pollution and hospital admissions due to respiratory manifestations and asthma attacks in children. Of the air pollution indices, only SO2 concentration was associated with respiratory-related hospital admissions but not asthma attacks.
{"title":"The temporal-spatial association of respiratory manifestations and air pollution in children referred to the Emergency Department of Akbar Children’s Hospital, Mashhad, Iran","authors":"Nasrin Moazzen, Amirreza Memari, Nafiseh Todarbary","doi":"10.1186/s43054-024-00301-2","DOIUrl":"https://doi.org/10.1186/s43054-024-00301-2","url":null,"abstract":"Air pollution causes many respiratory disorders, especially in children and the elderly. These disorders include asthma exacerbations, bronchiolitis, and pneumonia. Research on the association between air pollution and respiratory disorders helps to reevaluate environmental policies in developing countries. This descriptive cross-sectional study was conducted on 932 children with respiratory manifestations admitted from December 2017 to December 2019 at the Emergency Department of Akbar Children’s Hospital of Mashhad University of Medical Sciences, Mashhad, Iran. Air pollution indices such as concentration of sulfur dioxide (SO2), nitrogen dioxide (NO2), carbon monoxide (CO), and particulate matter (PM) smaller than 2.5 and 10 μm and other parameters, including the air quality index (AQI), air temperature, and humidity level from 2017 to 2019, were retrieved from Mashhad Environmental Pollution Monitoring Center. Demographic and clinical data of patients were collected from patients’ hospital documents. We used descriptive analytical methods such as central tendency, variability, and frequency distribution to report and analyze demographic and clinical data through tables and diagrams. The association between air pollution indices and respiratory manifestations was examined by the Spearman correlation test. The correlation between the AQI and total hospital admissions and asthma-related hospital admissions was also evaluated by the Spearman correlation test. Hospital admissions due to respiratory manifestations were not associated with the AQI of each month (p-value = 0.794). The concentration of SO2 was correlated with respiratory-related hospital admissions (correlation coefficient = 0.487, p-value = 0.016) but not asthma attacks. Generally, our cross-sectional study showed no statistically considerable association between air pollution and hospital admissions due to respiratory manifestations and asthma attacks in children. Of the air pollution indices, only SO2 concentration was associated with respiratory-related hospital admissions but not asthma attacks.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-16DOI: 10.1186/s43054-024-00295-x
Agnieszka Jędzura, Monika Dębowska, Piotr Adamczyk
Generally, it is not well known that Lowe’s syndrome may coexist with hyperammonemia and hipocarnitynemia. The importance of hyperammonemia in the diagnosis of kidney diseases is not completely understood. We present the history of a 13-year-old boy, admitted to the hospital due to proteinuria. In the past, the boy was diagnosed with binocular cataracts in infancy. Then he went through neurological diagnostic tests which diagnosed muscular hypotonia and psychomotor retardation but no inherited errors of metabolism were found. Proteinuria has been observed since the age of 2. Ultrasound imaging at the age of 5 showed the presence of a shading deposit in the kidney. At the age of 13, the boy was referred to the Pediatric Nephrology Ward. The laboratory tests revealed: a reduction of glomerular filtration rate, metabolic acidosis, proteinuria, hypercalciuria, increased activity of AST (SGOT), CK, LDH, hyperammonemia, and decreased concentration of total carnitine in blood serum. Based on the clinical presentation, Lowe’s syndrome was diagnosed. The genetic testing revealed an OCRL gene hemizygous mutation. Lowe’s syndrome is an example of a disease in which clinical symptoms—although occurring early and in high intensity—may not raise the suspicion of tubulopathy for a long time if they are not analyzed in a complex manner. There is a necessity to educate healthcare practitioners from other fields about the extrarenal symptoms of genetically determined tubulopathies. l-carnitine deficiency may be a symptom of proximal tubulopathy, including Lowe’s syndrome. l-carnitine deficiency leads to disturbances in the efficiency of the urea cycle, which results in hyperammonemia. Hyperammonemia is not only a symptom of inborn errors of metabolism and liver failure, but it may also lead to the diagnosis of tubulopathy. Since carnitine supplementation could have the desired beneficial effect on the patient’s general condition, it is postulated to conduct further studies on larger groups of patients with Lowe’s syndrome.
{"title":"Is hyperammonemia helpful in detecting syndromic tubulopathies with early extrarenal manifestations? A case report of Lowe’s syndrome","authors":"Agnieszka Jędzura, Monika Dębowska, Piotr Adamczyk","doi":"10.1186/s43054-024-00295-x","DOIUrl":"https://doi.org/10.1186/s43054-024-00295-x","url":null,"abstract":"Generally, it is not well known that Lowe’s syndrome may coexist with hyperammonemia and hipocarnitynemia. The importance of hyperammonemia in the diagnosis of kidney diseases is not completely understood. We present the history of a 13-year-old boy, admitted to the hospital due to proteinuria. In the past, the boy was diagnosed with binocular cataracts in infancy. Then he went through neurological diagnostic tests which diagnosed muscular hypotonia and psychomotor retardation but no inherited errors of metabolism were found. Proteinuria has been observed since the age of 2. Ultrasound imaging at the age of 5 showed the presence of a shading deposit in the kidney. At the age of 13, the boy was referred to the Pediatric Nephrology Ward. The laboratory tests revealed: a reduction of glomerular filtration rate, metabolic acidosis, proteinuria, hypercalciuria, increased activity of AST (SGOT), CK, LDH, hyperammonemia, and decreased concentration of total carnitine in blood serum. Based on the clinical presentation, Lowe’s syndrome was diagnosed. The genetic testing revealed an OCRL gene hemizygous mutation. Lowe’s syndrome is an example of a disease in which clinical symptoms—although occurring early and in high intensity—may not raise the suspicion of tubulopathy for a long time if they are not analyzed in a complex manner. There is a necessity to educate healthcare practitioners from other fields about the extrarenal symptoms of genetically determined tubulopathies. l-carnitine deficiency may be a symptom of proximal tubulopathy, including Lowe’s syndrome. l-carnitine deficiency leads to disturbances in the efficiency of the urea cycle, which results in hyperammonemia. Hyperammonemia is not only a symptom of inborn errors of metabolism and liver failure, but it may also lead to the diagnosis of tubulopathy. Since carnitine supplementation could have the desired beneficial effect on the patient’s general condition, it is postulated to conduct further studies on larger groups of patients with Lowe’s syndrome.","PeriodicalId":43064,"journal":{"name":"Egyptian Pediatric Association Gazette","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142180815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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