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Role of Serum Endocan Levels in Children with Bacterial and Viral Pneumonia: A Prospective, Case-Control Study. 血清内啡肽水平在儿童细菌性和病毒性肺炎中的作用:一项前瞻性病例对照研究。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0110
Serçin Taşar, İlknur Fidancı, İsmail Bulut, Gül Kırtıl, Rukiye Ünsal Saç, Medine Ayşin Taşar

Introduction and Objective: Endocan has been used as a biomarker in the differential diagnosis of pulmonary diseases in adults. However, there are only a limited number of studies on its use in children. In this context, the objective of this study is to evaluate the relationship between serum endocan levels in children with bacterial and viral pneumonia. Materials and Methods: The population of this prospective case-control study consisted of hospitalized children aged 1 month to 15 years diagnosed with pneumonia between August 2020 and July 2021, whereas the control group consisted of randomly selected healthy children. The demographic and clinical characteristics of all participants were recorded. Participants' endocan levels, white blood cell (WBC) and neutrophil counts, and C-reactive protein (CRP) and procalcitonin (PCT) levels were measured within the scope of the laboratory tests. Results: The study sample consisted of 41 children, of whom 21 had bacterial pneumonia and 20 had viral pneumonia, whereas the control group consisted of 47 healthy children. Serum endocan levels, WBC and neutrophil counts, and PCT and CRP levels were significantly higher in children with bacterial pneumonia than in children with viral pneumonia and healthy children (P < 0.05). Additionally, serum endocan levels were significantly higher in children with viral pneumonia than in healthy children (P < 0.001). The endocan levels in children with bacterial pneumonia were significantly associated with the need for intensive care (P = 0.004) and correlated with the length of hospital stay (LoS) (r = 0.592, P = 0.005). Conclusion: The findings of this study indicated that serum endocan levels can be used in the differential diagnosis of bacterial and viral pneumonias. Additionally, it was found that the need for intensive care and LoS were significantly correlated with endocan levels in children with bacterial pneumonia.

简介与目的:内啡肽已被用作成人肺部疾病鉴别诊断的生物标志物。然而,关于其在儿童中的应用的研究数量有限。在此背景下,本研究的目的是评估细菌性和病毒性肺炎患儿血清内啡肽水平之间的关系。材料和方法:本前瞻性病例对照研究的人群包括2020年8月至2021年7月期间诊断为肺炎的1个月至15岁住院儿童,而对照组由随机选择的健康儿童组成。记录所有参与者的人口学和临床特征。参与者的内啡肽水平、白细胞(WBC)和中性粒细胞计数、c反应蛋白(CRP)和降钙素原(PCT)水平在实验室测试范围内测量。结果:研究样本为41例儿童,其中21例为细菌性肺炎,20例为病毒性肺炎,对照组为47例健康儿童。细菌性肺炎患儿血清内能水平、WBC、中性粒细胞计数、PCT、CRP水平均显著高于病毒性肺炎患儿和健康患儿(P P P = 0.004),且与住院时间(LoS)相关(r = 0.592, P = 0.005)。结论:血清内啡肽水平可用于细菌性肺炎和病毒性肺炎的鉴别诊断。此外,我们发现重症监护的需要和LoS与细菌性肺炎患儿的内啡肽水平显著相关。
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引用次数: 0
Evaluation Value of Allergy in Adenoid Hypertrophy Through Blood Inflammatory Cells and Total Immunoglobulin E. 通过血炎性细胞和总免疫球蛋白E评价腺样体肥大患者过敏反应的价值。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0114
Hailing Zhang, Yanliang Sun, Chaofan Shen, Peng Jin, Wei Yue, Qinqin Zhang, Fengjuan Zhu, Hongping Zhang

Objective: Previous reports have indicated the close association of allergy with adenoid hypertrophy (AH). The aim of this study was to evaluate whether the inflammatory cells and total immunoglobulin E (IgE) in blood could be useful in the diagnosis of allergy in AH. Methods: Two hundred thirty-four children who underwent adenoidectomy were retrospectively enrolled in this study. Blood routine parameters were recorded, and total IgE as well as specific IgE (sIgE) of common allergens were tested perioperatively. The diagnostic utility of blood inflammatory cells and total IgE compared with serum sIgE testing was assessed. Results: In our study, 35.47% of AH children were atopic. Dermatophagoides farinae (d2), Dermatophagoides pteronyssinus (d1), and mold (mx2) were the most common sensitizing allergens. Significantly elevated eosinophil count, eosinophil to lymphocyte value, and total IgE were found in allergic AH children. As a result of receiver operating characteristic analysis, systemic total IgE could be a method to diagnose allergy in AH with a cutoff value of 46.55 and higher (area under curve [AUC] = 0.837; P < 0.001). Peripheral eosinophil count and eosinophil to lymphocyte were also able to predict positive allergy test result in AH children, with a cutoff value of 0.295 (AUC = 0.721; P < 0.001) and 0.082 (AUC = 0.685; P < 0.001), respectively. Conclusion: The presence of allergy can be distinguished by looking at peripheral total IgE and/or blood eosinophils in AH, which will guide us to the precise treatment of AH and also reduce the cost considerably.

目的:以往的报道表明过敏与腺样体肥大(AH)密切相关。本研究的目的是评估血液中的炎症细胞和总免疫球蛋白E (IgE)是否可用于AH过敏的诊断。方法:对234例接受腺样体切除术的儿童进行回顾性研究。记录血常规参数,围手术期检测常见过敏原总IgE及特异性IgE (sIgE)。评估了血液炎症细胞和总IgE与血清sIgE检测的诊断效用。结果:本研究中,35.47%的AH患儿为特应性。farinae (d2)、pteronyssinus (d1)和霉菌(mx2)是最常见的致敏变应原。过敏性AH患儿嗜酸性粒细胞计数、嗜酸性粒细胞与淋巴细胞比值及总IgE均显著升高。经受试者工作特征分析,全身总IgE可作为AH过敏的诊断方法,临界值为46.55及以上(曲线下面积[AUC] = 0.837;结论:通过观察AH外周血总IgE和/或血嗜酸性粒细胞的变化,可以判断AH是否存在过敏反应,这将指导我们对AH的精确治疗,并大大降低治疗成本。
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引用次数: 1
Comparison of Children Hospitalized for Asthma Before and During the COVID-19 Pandemic. COVID-19大流行前和期间因哮喘住院儿童的比较
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0115
Joanne Nazif, Ellen Silver, Chihiro Okada, Elissa Gross

Background: Studies suggest that children with asthma experienced improved symptom control and less frequent inpatient admission during the COVID-19 (coronavirus disease 2019) pandemic. The characteristics of hospitalized children remain less well defined. Methods: This retrospective cohort study compared patients admitted for asthma during the pandemic with patients hospitalized the year prior at a children's hospital in the Bronx, New York. Results: In the year before the pandemic, 667 children were hospitalized for asthma, compared with 177 children the following year. Children admitted during the pandemic were older (7.8 versus 7.0 years, P = 0.04), more likely underweight (P < 0.01), and more likely to have public insurance (P = 0.02). Additionally, children hospitalized during the pandemic required intensive care (P = 0.03) and magnesium sulfate (P = 0.05) more frequently. Despite this, length of stay remained similar. Conclusion: While inpatient utilization for asthma decreased during the pandemic, children hospitalized were sicker on presentation. The cause of this is likely multifactorial and requires further study.

背景:研究表明,在COVID-19(冠状病毒病2019)大流行期间,哮喘儿童症状控制得到改善,住院次数减少。住院儿童的特征仍然不太明确。方法:这项回顾性队列研究比较了大流行期间因哮喘入院的患者与前一年在纽约布朗克斯一家儿童医院住院的患者。结果:在大流行前一年,有667名儿童因哮喘住院,而第二年为177名儿童。大流行期间入院的儿童年龄较大(7.8岁对7.0岁,P = 0.04),更有可能体重不足(P = 0.02)。此外,大流行期间住院的儿童更频繁地需要重症监护(P = 0.03)和硫酸镁(P = 0.05)。尽管如此,停留的时间仍然相似。结论:流感大流行期间,因哮喘住院的儿童减少了,但入院后病情加重。其原因可能是多因素的,需要进一步研究。
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引用次数: 1
Food-Dependent Exercise-Induced Anaphylaxis Caused by Carrots: A Case Report. 胡萝卜引起的食物依赖性运动致过敏反应1例报告。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-12-01 DOI: 10.1089/ped.2022.0122
Nami Hirai, Mika Ogata, Jun Kido, Masashi Nakamura, Nayu Sato, Nobue Takamatsu, Naoshi Shimojo, Yuji Aoki, Kayoko Matsunaga, Tomoyuki Mizukami

Background: Most cases of food-dependent exercise-induced anaphylaxis (FDEIA) are caused by eating wheat or crustaceans. However, fruits or vegetables may rarely act as allergens for FDEIA. We report a rare case of FDEIA caused by eating carrots. Case Presentation: An 8-year-old boy developed an anaphylactic reaction while playing, after eating lunch that included cooked carrots. Serum carrot-specific immunoglobulin E level was 0.19 UA/mL. The prick-by-prick test for raw carrots was positive (wheal diameter: 4 mm). The patient developed urticaria after exercise provocation tests following ingestion of raw carrots. Carrot proteins were analyzed by 2-dimensional Western blotting to identify the causative allergens. Nine proteins were identified as candidate antigens at 21-66 kDa. Conclusions: Our patient presented with FDEIA symptoms after ingesting both raw and cooked carrots. Both raw and cooked carrots contain 9 proteins that may induce FDEIA.

背景:大多数食物依赖性运动诱发过敏性反应(FDEIA)病例是由食用小麦或甲壳类动物引起的。然而,水果或蔬菜很少会成为FDEIA的过敏原。我们报告一例罕见的由吃胡萝卜引起的FDEIA。病例介绍:一名8岁男孩在吃了含有煮熟胡萝卜的午餐后,在玩耍时发生过敏反应。血清胡萝卜特异性免疫球蛋白E水平为0.19 UA/mL。生胡萝卜的逐刺试验呈阳性(轮径:4mm)。患者在食用生胡萝卜后进行运动激发试验后出现荨麻疹。采用二维免疫印迹法分析胡萝卜蛋白,鉴定致敏原。9个蛋白在21-66 kDa处被鉴定为候选抗原。结论:本例患者在食用生胡萝卜和熟胡萝卜后均出现了FDEIA症状。生的和煮熟的胡萝卜都含有9种可能诱发FDEIA的蛋白质。
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引用次数: 1
Digital Inhaler Technology: Is It Ready for Prime Time? 数字吸入器技术:准备好进入黄金时代了吗?
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0113
Scott Bickel, Ronald Morton, Nemr Eid
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引用次数: 0
Comparison of Acute Phase Thymus and Activation-Regulated Chemokine (TARC) Levels in Food Protein-Induced Enterocolitis Syndrome and IgE-Dependent Food Allergy. 食物蛋白诱导的肠结肠炎综合征和ige依赖性食物过敏急性期胸腺和活化调节趋化因子(TARC)水平的比较
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0089
Eishi Makita, Daisuke Sugawara, Sae Kuroda, Kae Itabashi, Yuka Hirakubo, Kazuhito Nonaka, Ko Ichihashi
Introduction: Patients with food protein-induced enterocolitis syndrome (FPIES) have elevated thymus and activation-regulated chemokine (TARC) levels in the acute phase. However, to the best of our knowledge, no study has evaluated TARC levels in the acute phase of immunoglobulin E-dependent food allergy (IgE-FA). If TARC elevation is a specific response to FPIES among FAs, TARC measurement may help distinguish between FPIES and IgE-FA. Thus, we investigated acute phase TARC levels in patients with FPIES and IgE-FA. Methods: Thirty-one episodes in 16 patients with FPIES and 20 episodes (13 were anaphylaxis) in 20 patients with IgE-FA were included. Patients with eczema were excluded. Serum TARC levels within 6 h of allergic reaction onset and age-adjusted TARC ratios (TARC levels divided by age-specific normal TARC values) were compared between the groups. Results: The median age was 1.1 and 3.6 years in the FPIES and IgE-FA groups, respectively (P < 0.001). The median (range) serum TARC (pg/mL) levels were significantly higher in the FPIES group than in the IgE-FA group [1,283 (410-3,821) versus 377 (109-1,539); P < 0.001]. The median (range) age-adjusted TARC ratios were also significantly higher in the FPIES group [2.56 (0.57-7.86) versus 1.08 (0.15-2.17); P < 0.001]. The area under the curve (AUC) for TARC to distinguish FPIES from IgE-FA was 0.926, and the AUC for the age-adjusted TARC ratio was 0.850. The odds ratio for FPIES diagnosis per 1,000 pg/mL increase in TARC was 31.6 (P = 0.002), and the odds ratio adjusted by age was 17.1 (P = 0.016). Conclusion: Acute phase TARC levels were higher in patients with FPIES than in patients with IgE-FA. The increase in acute phase TARC levels was considered to be a specific response to FPIES among FAs. Measurement of TARC levels in the acute phase may help differentiate FPIES from IgE-FA.
食物蛋白诱导的小肠结肠炎综合征(FPIES)患者在急性期胸腺和激活调节趋化因子(TARC)水平升高。然而,据我们所知,还没有研究评估过免疫球蛋白e依赖性食物过敏(IgE-FA)急性期的TARC水平。如果TARC升高是FAs对FPIES的特异性反应,那么TARC测量可能有助于区分FPIES和IgE-FA。因此,我们研究了FPIES和IgE-FA患者急性期TARC水平。方法:选取16例FPIES患者的31次发作和20例IgE-FA患者的20次发作(其中13次为过敏反应)。排除有湿疹的患者。比较两组患者过敏反应发生6小时内的血清TARC水平和年龄调整后的TARC比率(TARC水平除以年龄特异性正常TARC值)。结果:FPIES组和IgE-FA组的中位年龄分别为1.1岁和3.6岁(P P P P = 0.002),经年龄调整后的优势比为17.1 (P = 0.016)。结论:fies患者急性期TARC水平高于IgE-FA患者。急性期TARC水平的升高被认为是FAs患者对FPIES的特异性反应。在急性期测量TARC水平可能有助于区分fies和IgE-FA。
{"title":"Comparison of Acute Phase Thymus and Activation-Regulated Chemokine (TARC) Levels in Food Protein-Induced Enterocolitis Syndrome and IgE-Dependent Food Allergy.","authors":"Eishi Makita,&nbsp;Daisuke Sugawara,&nbsp;Sae Kuroda,&nbsp;Kae Itabashi,&nbsp;Yuka Hirakubo,&nbsp;Kazuhito Nonaka,&nbsp;Ko Ichihashi","doi":"10.1089/ped.2022.0089","DOIUrl":"https://doi.org/10.1089/ped.2022.0089","url":null,"abstract":"Introduction: Patients with food protein-induced enterocolitis syndrome (FPIES) have elevated thymus and activation-regulated chemokine (TARC) levels in the acute phase. However, to the best of our knowledge, no study has evaluated TARC levels in the acute phase of immunoglobulin E-dependent food allergy (IgE-FA). If TARC elevation is a specific response to FPIES among FAs, TARC measurement may help distinguish between FPIES and IgE-FA. Thus, we investigated acute phase TARC levels in patients with FPIES and IgE-FA. Methods: Thirty-one episodes in 16 patients with FPIES and 20 episodes (13 were anaphylaxis) in 20 patients with IgE-FA were included. Patients with eczema were excluded. Serum TARC levels within 6 h of allergic reaction onset and age-adjusted TARC ratios (TARC levels divided by age-specific normal TARC values) were compared between the groups. Results: The median age was 1.1 and 3.6 years in the FPIES and IgE-FA groups, respectively (P < 0.001). The median (range) serum TARC (pg/mL) levels were significantly higher in the FPIES group than in the IgE-FA group [1,283 (410-3,821) versus 377 (109-1,539); P < 0.001]. The median (range) age-adjusted TARC ratios were also significantly higher in the FPIES group [2.56 (0.57-7.86) versus 1.08 (0.15-2.17); P < 0.001]. The area under the curve (AUC) for TARC to distinguish FPIES from IgE-FA was 0.926, and the AUC for the age-adjusted TARC ratio was 0.850. The odds ratio for FPIES diagnosis per 1,000 pg/mL increase in TARC was 31.6 (P = 0.002), and the odds ratio adjusted by age was 17.1 (P = 0.016). Conclusion: Acute phase TARC levels were higher in patients with FPIES than in patients with IgE-FA. The increase in acute phase TARC levels was considered to be a specific response to FPIES among FAs. Measurement of TARC levels in the acute phase may help differentiate FPIES from IgE-FA.","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"114-119"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40369159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula. 表面活性剂治疗肺炎球菌坏死性肺炎合并支气管胸膜瘘致难治性气胸和急性呼吸窘迫综合征1例。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0112
Zeynelabidin Ozturk, Merve Duman Küçükkuray, Suna Özdem, Hasibe Gökçe Çınar, Caner Aytekin, Özgür Çağlar

Background: Necrotizing pneumonia rarely occurs in children, but when it does it can be complicated by bronchopleural fistula, empyema, pneumothorax, sepsis, and acute respiratory distress syndrome (ARDS). Antimicrobial therapy is the cornerstone of its management; however, surgery is necessary in some cases. Ideally, surgical interventions are kept to a minimum, but this is not always possible if there is a mass effect from air and fluid in the pleural space, pulmonary necrosis leading to massive hemoptysis, uncontrolled sepsis, or difficulties with assisted ventilation. Case Presentation: Herein we present a patient with refractory pyopneumothorax and ARDS due to pneumococcal necrotizing pneumonia complicated by a bronchopleural fistula. The patient's clinical condition deteriorated despite antibiotics, surgical drainage, and assisted ventilation. Owing to pneumothorax with a high percentage of air leakage, bilateral diffuse collapse of the lungs, and insufficient oxygenation, surgical treatment was considered, but because of the patient's lack of tolerance for surgery due to hemodynamic reasons and the complications associated with surgery, medical treatment was determined to be more appropriate. Surfactant treatment was administered to the patient, resulting in significant clinical improvement. Conclusion: To the best of our knowledge, this is the first report of the use of surfactant to treat ARDS due to necrotizing pneumonia. Based on the presented case, we think surfactant can be considered as a salvage treatment for such patients.

背景:坏死性肺炎很少发生在儿童中,但当它发生时可能并发支气管胸膜瘘、脓胸、气胸、败血症和急性呼吸窘迫综合征(ARDS)。抗菌治疗是其管理的基石;然而,在某些情况下,手术是必要的。理想情况下,手术干预应保持在最低限度,但如果存在胸膜间隙空气和液体的团块效应,肺坏死导致大量咯血,败血症不受控制或辅助通气困难,则手术干预并不总是可行的。病例报告:我们在此报告一难治性气胸及急性呼吸窘迫综合征,因肺炎球菌性坏死性肺炎合并支气管胸膜瘘。尽管使用抗生素、手术引流和辅助通气,患者的临床状况仍恶化。由于气胸漏气比例高,双侧弥漫性肺萎陷,氧合不足,考虑手术治疗,但由于患者血流动力学原因对手术缺乏耐受性以及手术相关并发症,确定药物治疗更为合适。给予表面活性剂治疗,临床效果明显改善。结论:据我们所知,这是第一例使用表面活性剂治疗坏死性肺炎所致ARDS的报道。基于本病例,我们认为表面活性剂可作为此类患者的救助性治疗。
{"title":"Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula.","authors":"Zeynelabidin Ozturk,&nbsp;Merve Duman Küçükkuray,&nbsp;Suna Özdem,&nbsp;Hasibe Gökçe Çınar,&nbsp;Caner Aytekin,&nbsp;Özgür Çağlar","doi":"10.1089/ped.2022.0112","DOIUrl":"https://doi.org/10.1089/ped.2022.0112","url":null,"abstract":"<p><p><b><i>Background:</i></b> Necrotizing pneumonia rarely occurs in children, but when it does it can be complicated by bronchopleural fistula, empyema, pneumothorax, sepsis, and acute respiratory distress syndrome (ARDS). Antimicrobial therapy is the cornerstone of its management; however, surgery is necessary in some cases. Ideally, surgical interventions are kept to a minimum, but this is not always possible if there is a mass effect from air and fluid in the pleural space, pulmonary necrosis leading to massive hemoptysis, uncontrolled sepsis, or difficulties with assisted ventilation. <b><i>Case Presentation:</i></b> Herein we present a patient with refractory pyopneumothorax and ARDS due to pneumococcal necrotizing pneumonia complicated by a bronchopleural fistula. The patient's clinical condition deteriorated despite antibiotics, surgical drainage, and assisted ventilation. Owing to pneumothorax with a high percentage of air leakage, bilateral diffuse collapse of the lungs, and insufficient oxygenation, surgical treatment was considered, but because of the patient's lack of tolerance for surgery due to hemodynamic reasons and the complications associated with surgery, medical treatment was determined to be more appropriate. Surfactant treatment was administered to the patient, resulting in significant clinical improvement. <b><i>Conclusion:</i></b> To the best of our knowledge, this is the first report of the use of surfactant to treat ARDS due to necrotizing pneumonia. Based on the presented case, we think surfactant can be considered as a salvage treatment for such patients.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"120-123"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency. 脂多糖反应性米色锚缺乏症的青春期女孩间质性肺病
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0088
Gökçen Dilşa Tuğcu, Sanem Eryılmaz Polat, Ayşe Metin, Diclehan Orhan, Güzin Cinel

Background: Previously, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency was categorized as a subtype of common variable immune deficiency. Research shows that LRBA deficiency is caused by dysregulation of T cell activation and expansion; it is placed under the category of immune dysregulation with cytotoxic T lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency. Cohort studies have revealed a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation [enteropathy, autoimmune cytopenia, interstitial lung disease (ILD), etc.] on 1 hand and immune deficiency (hypogammaglobulinemia, recurrent infections, bronchiectasis, etc.) on the other hand. Chronic lung disease is frequently seen in LRBA deficiency and is associated with poor outcomes. Case Presentation: This case report evaluates a female who presented with recurrent pneumonia and bronchiectasis but did not respond to treatment; she was lastly diagnosed with ILD with detailed clinical, radiological, and pathological workup. Conclusions: The respiratory characteristics of patients with LRBA deficiency should be investigated, monitored, and treated from the time of its diagnosis. The awareness and involvement of pulmonologists to pulmonary morbidity of patients with LRBA deficiency in workup and clinical decision making are crucial.

背景:以前,脂多糖反应性米色锚蛋白(LRBA)缺乏症被归类为常见可变免疫缺陷的一种亚型。研究表明,LRBA缺乏是由T细胞活化和扩增失调引起的;它被归入免疫失调与细胞毒性T淋巴细胞相关蛋白4 (CTLA-4)单倍功能不全的范畴。队列研究揭示了广泛的临床表现和可变的表型表达,一方面包括免疫失调[肠病、自身免疫性细胞减少症、间质性肺疾病(ILD)等],另一方面包括免疫缺陷(低γ球蛋白血症、复发性感染、支气管扩张等)。慢性肺部疾病常见于LRBA缺乏,并与不良预后相关。病例介绍:这个病例报告评估了一个女性谁提出复发性肺炎和支气管扩张,但没有响应治疗;经过详细的临床、放射学和病理检查,最终诊断为ILD。结论:LRBA缺乏症患者的呼吸特征应从诊断时开始调查、监测和治疗。肺科医师对LRBA缺乏症患者肺部疾病的认识和参与是至关重要的。
{"title":"Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency.","authors":"Gökçen Dilşa Tuğcu,&nbsp;Sanem Eryılmaz Polat,&nbsp;Ayşe Metin,&nbsp;Diclehan Orhan,&nbsp;Güzin Cinel","doi":"10.1089/ped.2022.0088","DOIUrl":"https://doi.org/10.1089/ped.2022.0088","url":null,"abstract":"<p><p><b><i>Background:</i></b> Previously, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency was categorized as a subtype of common variable immune deficiency. Research shows that LRBA deficiency is caused by dysregulation of T cell activation and expansion; it is placed under the category of immune dysregulation with cytotoxic T lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency. Cohort studies have revealed a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation [enteropathy, autoimmune cytopenia, interstitial lung disease (ILD), etc.] on 1 hand and immune deficiency (hypogammaglobulinemia, recurrent infections, bronchiectasis, etc.) on the other hand. Chronic lung disease is frequently seen in LRBA deficiency and is associated with poor outcomes. <b><i>Case Presentation:</i></b> This case report evaluates a female who presented with recurrent pneumonia and bronchiectasis but did not respond to treatment; she was lastly diagnosed with ILD with detailed clinical, radiological, and pathological workup. <b><i>Conclusions:</i></b> The respiratory characteristics of patients with LRBA deficiency should be investigated, monitored, and treated from the time of its diagnosis. The awareness and involvement of pulmonologists to pulmonary morbidity of patients with LRBA deficiency in workup and clinical decision making are crucial.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"133-138"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variable Expression of Lung Disease Due to a Novel Homozygous ABCA3 Variant. 由一种新的纯合ABCA3变异引起的肺部疾病的可变表达。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0023
Samia Hamouda, Alix de Becdelièvre, Salma Ben Ameur, Ines Trabelsi, Monique Fabre, Ralph Epaud, Pascale Fanen, Khadija Boussetta

Background: Mutations in the ATP-binding cassette transporter A3 (ABCA3) gene are one of the most common surfactant disorders leading to interstitial lung diseases (ILD). The clinical spectrum and severity of lung disease caused by ABCA3 deficiency due to missense variants is variable. Case Presentations: A novel ABCA3 c.3135G>C (p.Gln1045His) mutation was identified at the homozygous state in 3 subjects from 2 unrelated families: one 19-month-old boy with severe ILD and his homozygous pauci-symptomatic mother, and one 10-year-old girl with moderate late-onset ILD. Corticosteroid pulses associated with hydroxychloroquine were beneficial for both children. Conclusion: We illustrate here the huge intra- and interfamilial phenotypic variability associated with the same homozygous missense ABCA3 mutation, and the benefit of identifying the disease for treatment, follow-up, and appropriate genetic counseling.

背景:atp结合盒转运体A3 (ABCA3)基因突变是导致间质性肺疾病(ILD)的最常见表面活性剂疾病之一。由错义变异引起的ABCA3缺乏导致的肺部疾病的临床谱和严重程度是不同的。病例报告:在来自2个不相关家庭的3名受试者中发现了一种新的ABCA3 C . 3135g >C (p.g n1045his)纯合状态突变:1名患有严重ILD的19个月大男孩及其纯合缺乏症母亲,1名患有中度迟发性ILD的10岁女孩。皮质类固醇脉冲联合羟氯喹对两名儿童都有益。结论:我们在此说明了与相同纯合错义ABCA3突变相关的巨大家族内和家族间表型变异,以及识别疾病以进行治疗,随访和适当的遗传咨询的益处。
{"title":"Variable Expression of Lung Disease Due to a Novel Homozygous <i>ABCA3</i> Variant.","authors":"Samia Hamouda,&nbsp;Alix de Becdelièvre,&nbsp;Salma Ben Ameur,&nbsp;Ines Trabelsi,&nbsp;Monique Fabre,&nbsp;Ralph Epaud,&nbsp;Pascale Fanen,&nbsp;Khadija Boussetta","doi":"10.1089/ped.2022.0023","DOIUrl":"https://doi.org/10.1089/ped.2022.0023","url":null,"abstract":"<p><p><b><i>Background:</i></b> Mutations in the ATP-binding cassette transporter A3 (<i>ABCA3</i>) gene are one of the most common surfactant disorders leading to interstitial lung diseases (ILD). The clinical spectrum and severity of lung disease caused by ABCA3 deficiency due to missense variants is variable. <b><i>Case Presentations:</i></b> A novel <i>ABCA3</i> c.3135G>C (p.Gln1045His) mutation was identified at the homozygous state in 3 subjects from 2 unrelated families: one 19-month-old boy with severe ILD and his homozygous pauci-symptomatic mother, and one 10-year-old girl with moderate late-onset ILD. Corticosteroid pulses associated with hydroxychloroquine were beneficial for both children. <b><i>Conclusion:</i></b> We illustrate here the huge intra- and interfamilial phenotypic variability associated with the same homozygous missense <i>ABCA3</i> mutation, and the benefit of identifying the disease for treatment, follow-up, and appropriate genetic counseling.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"124-128"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40369158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome. 对依那西普有良好反应的儿童患者中一种罕见的自身炎症性疾病:伴B细胞免疫缺陷的铁母细胞性贫血、周期性发热和发育迟缓综合征。
IF 0.9 4区 医学 Q4 ALLERGY Pub Date : 2022-09-01 DOI: 10.1089/ped.2022.0090
Rabia Miray Kisla Ekinci, Aslıhan Zararsiz, Gizem Urel Demir, Ozlem Anlas

Introduction: Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement. Case Presentation: We present here a 15-month old male, demonstrated brittle hair, growth hormone deficiency, recurrent fever, arthritis, recurrent infections, mild anemia, and hypogammaglobulinemia. The patient did not respond to colchicine treatment, and after establishing SIFD diagnosis with the presence of homozygote c.948-949delAAinsGG (p.Lys317Glu) mutation in TRNT1 gene, we commenced monthly intravenous immunoglobulin replacement and weekly subcutaneous etanercept. A rapid resolution of fever episodes and infections occurred after initiation of this treatment regimen. Afterward, both anemia and growth parameters have improved during follow-up. Conclusion: SIFD syndrome should be considered in patients with recurrent fever, arthritis, and growth retardation even in the absence of severe anemia and prominent hypogammaglobulinemia.

铁母细胞性贫血伴B细胞免疫缺陷、周期性发热和发育迟缓(SIFD)综合征是由双等位基因TRNT1突变引起的。TRNT1基因编码一种添加cca的tRNA核苷酸转移酶。突变的TRNT1导致不同程度的免疫缺陷和贫血,并伴有几个器官受累。病例介绍:我们在此报告一位15个月大的男性,表现为头发易脆,生长激素缺乏,反复发烧,关节炎,反复感染,轻度贫血和低γ -球蛋白血症。患者对秋水仙碱治疗无反应,在TRNT1基因存在c.948-949delAAinsGG (p.Lys317Glu)纯合子的SIFD诊断后,我们开始每月静脉注射免疫球蛋白替代,每周皮下注射依那西普。开始这种治疗方案后,发烧发作和感染迅速消退。在随访期间,贫血和生长参数均有改善。结论:即使没有严重贫血和显著的低丙种球蛋白血症,复发性发热、关节炎和生长迟缓患者也应考虑SIFD综合征。
{"title":"A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.","authors":"Rabia Miray Kisla Ekinci,&nbsp;Aslıhan Zararsiz,&nbsp;Gizem Urel Demir,&nbsp;Ozlem Anlas","doi":"10.1089/ped.2022.0090","DOIUrl":"https://doi.org/10.1089/ped.2022.0090","url":null,"abstract":"<p><p><b><i>Introduction:</i></b> Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in immunodeficiency and anemia in various degrees, accompanied by several organ involvement. <b><i>Case Presentation:</i></b> We present here a 15-month old male, demonstrated brittle hair, growth hormone deficiency, recurrent fever, arthritis, recurrent infections, mild anemia, and hypogammaglobulinemia. The patient did not respond to colchicine treatment, and after establishing SIFD diagnosis with the presence of homozygote c.948-949delAAinsGG (p.Lys317Glu) mutation in TRNT1 gene, we commenced monthly intravenous immunoglobulin replacement and weekly subcutaneous etanercept. A rapid resolution of fever episodes and infections occurred after initiation of this treatment regimen. Afterward, both anemia and growth parameters have improved during follow-up. <b><i>Conclusion:</i></b> SIFD syndrome should be considered in patients with recurrent fever, arthritis, and growth retardation even in the absence of severe anemia and prominent hypogammaglobulinemia.</p>","PeriodicalId":54389,"journal":{"name":"Pediatric Allergy Immunology and Pulmonology","volume":"35 3","pages":"129-132"},"PeriodicalIF":0.9,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40368716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
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Pediatric Allergy Immunology and Pulmonology
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