Archives De Pediatrie最新文献

{"title":"Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2)","authors":"Thomas Edouard ,&nbsp;Agnès Linglart","doi":"10.1016/S0929-693X(24)00154-4","DOIUrl":"10.1016/S0929-693X(24)00154-4","url":null,"abstract":"<div><div>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2; MIM #613312) is a very rare disorder caused by biallelic loss-of-function mutations in the <em>ENPP1</em> (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene. ENPP1 deficiency encompasses a spectrum of phenotypes that includes, in addition to ARHR2, generalized arterial calcification of infancy (GACI), ossification of the posterior longitudinal ligament (OPLL), and pseudoxanthoma elasticum. ARHR2 can be found in GACI survivors, but it may also be the first manifestation of ENPP1 deficiency. Although the precise mechanisms are not fully elucidated, patients with GACI and ARHR2 have elevated serum FGF23 levels, leading to renal phosphate wasting and hypophosphatemia. As a result, the clinical and radiological phenotype of ARHR2 patients is very similar to that of patients affected with other forms of hypophosphatemic rickets, such as X-linked hypophosphatemia. Patients show signs of rickets (abnormal mineralization of growth plates in children) and osteomalacia (abnormal bone mineralization in children and adults) of varying severity. Clinical manifestations specific to <em>ENPP1</em> loss-of-function mutations and common to GACI, such as ectopic calcifications (valvular, arterial, or periarticular), deafness, OPLL, and PXE, may also be found. Genetic confirmation of the disease is important so as to ensure that patients receive the appropriate treatment or have the opportunity to participate in clinical trials to evaluate the safety and efficacy of novel and promising recombinant enzyme therapies.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S27-4S32"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327138","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}

{"title":"Biology of bone mineralization and ectopic calcifications: the same actors for different plays","authors":"Marie-Hélène Lafage-Proust ,&nbsp;David Magne","doi":"10.1016/S0929-693X(24)00151-9","DOIUrl":"10.1016/S0929-693X(24)00151-9","url":null,"abstract":"<div><div>Bone has several crucial functions. It is essential for locomotion and allows our body to stand erect against gravity. A mismatch between the mechanical stresses applied to it and its mechanical resistance leads to fractures. Bone also has numerous endocrine functions. It acts as a reservoir for minerals such as calcium and phosphorus, making it the target of calciotropic hormones that mobilize these minerals, particularly calcium, according to the body's needs. Additionally, bone secretes hormones, notably fibroblast growth factor 23 (FGF23), which regulates urinary excretion of phosphate and the bioavailability of active vitamin D. Bone mineralization is the process that facilitates the organized deposition of minerals in the bone matrix, providing rigidity and appropriate mechanical resistance. This process is compromised in genetically related bone mineralization disorders, such as those causing hypophosphatemia or hypophosphatasia. Conversely, calcification can be pathological, affecting soft tissues like the blood vessels, as seen in generalized arterial calcification of infancy (GACI) or arterial calcification due to CD73 deficiency (ACDC). The aim of this article is to first present the composition and structure of the mineralized bone matrix, to review the current understanding of the molecular mechanisms of mineralization, and finally to discuss the conditions associated with ectopic calcification and the underlying mechanisms.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S3-4S12"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327135","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}

{"title":"Clinical presentation and burden of ENPP1 deficiency in adults","authors":"Lothar Seefried","doi":"10.1016/S0929-693X(24)00155-6","DOIUrl":"10.1016/S0929-693X(24)00155-6","url":null,"abstract":"<div><div>While the clinical consequences of severe ENPP1 deficiency leading to the rare disorders generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) are well defined and understood, much less is known about how this evolves into adulthood and how moderate ENPP1 deficiency can first manifest in adulthood. Moreover, growing evidence substantiates an association of genetic variants in the <em>ENPP1</em> gene with a wide range of further clinical manifestations including early-onset osteoporosis, osteoarthritis, and different forms of spinal ligament calcifications, i.e., diffuse idiopathic skeletal hyperostosis (DISH) and ossification of the posterior/anterior longitudinal ligament (OPLL/OALL). Furthermore, conditions with primarily extraskeletal signs and symptoms such as Cole disease, coagulopathies, and metabolic syndrome can seemingly result from <em>ENPP1</em> variants. The causality and the pathophysiology behind these different clinical presentations appear complex and require further research, especially since the coincidence of these different phenotypes is rarely described and available evidence suggests that part of the aforementioned manifestations may result from <em>ENPP1</em> effects beyond the catalytic activity of processing ATP to AMP and inorganic pyrophosphate (PPi). Growing awareness of the additional <em>ENPP1</em>-related manifestations across the lifespan will advance our understanding of this complex condition and help to standardize diagnostic approaches and develop individually tailored treatment concepts.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S33-4S36"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327139","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}

{"title":"Human genetic diseases of phosphate and pyrophosphate metabolism","authors":"Arnaud Molin","doi":"10.1016/S0929-693X(24)00152-0","DOIUrl":"10.1016/S0929-693X(24)00152-0","url":null,"abstract":"<div><div>In humans, physiological bone and tooth mineralization is a complex cell-mediated process. Prerequisites for proper mineralization include sufficient amounts of minerals (calcium and phosphate [Pi]) to initiate the formation and the growth of apatite crystals and adequate amounts of mineralization inhibitors, such as pyrophosphate (PPi), to prevent uncontrolled extraskeletal mineralization.</div><div>In this review, we provide an overview of the genetics of human disorders of mineralization, focusing on Pi and PPi metabolism and transport diseases, as the Pi/PPi ratio is an important determinant of crystal production in vivo. Variants in genes implicated in the homeostasis of this ratio may lead to a systemic or local increased Pi/PPi ratio, either by increasing the Pi concentration or by decreasing the PPi concentration, resulting in ectopic calcifications; conversely, variants may lead to a decreased Pi/PPi ratio, resulting in defective mineralization.</div><div>Owing to the implication of common pathways and, occasionally, to some extent of clinical overlap, an accurate diagnosis and understanding of the pathophysiology of these disorders may be challenging. However, precise molecular characterization of these conditions not only facilitates their diagnosis, but also helps to gather evidence regarding the pathophysiology and phenotype–genotype correlation to improve medical care and develop innovative therapeutics.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S13-4S20"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327136","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}

{"title":"ENPP1 deficiency: almost ready for prime time!","authors":"Justine Bacchetta ,&nbsp;Cyril Amouroux","doi":"10.1016/S0929-693X(24)00150-7","DOIUrl":"10.1016/S0929-693X(24)00150-7","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 4","pages":"Pages 4S1-4S2"},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327134","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}

{"title":"Predictors of radiographic pneumonia in febrile children with cancer presenting to the emergency department","authors":"Sarah S. Abdul Nabi ,&nbsp;Mohamad Khamis ,&nbsp;Freya Guinness ,&nbsp;Ola El Kebbi ,&nbsp;Hani Tamim ,&nbsp;Dima Hamideh ,&nbsp;Rasha D. Sawaya","doi":"10.1016/j.arcped.2024.04.003","DOIUrl":"10.1016/j.arcped.2024.04.003","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;&lt;span&gt;Fever is a common presenting complaint to the pediatric&lt;span&gt; emergency department (PED), especially among &lt;/span&gt;&lt;/span&gt;oncology&lt;span&gt;&lt;span&gt;&lt;span&gt; patients. While bacteremia has been extensively studied in this population, pneumonia has not. Some studies suggest that chest X-ray (CXR) does not have a role in the investigation of &lt;/span&gt;neutropenic fever in the &lt;/span&gt;absence of respiratory symptoms, yet non-neutropenic pediatric oncology patients were excluded from these studies.&lt;/span&gt;&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Objective&lt;/h3&gt;&lt;div&gt;We aimed to determine the incidence of CXRs ordered for febrile pediatric oncology patients, irrespective of their absolute neutrophil count (ANC), and to evaluate the rates of radiographic pneumonia as well as predictors of the latter in this group.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Method&lt;/h3&gt;&lt;div&gt;&lt;span&gt;&lt;span&gt;&lt;span&gt;&lt;span&gt;This study was conducted in the PED at the American University of Beirut Medical Center (AUBMC), an Eastern Mediterranean tertiary-care hospital. We conducted a retrospective cohort study of acutely febrile &lt;/span&gt;pediatric cancer patients, younger than 18 years, presenting to a tertiary center from 2014 to 2018. We included one randomly selected febrile visit per patient. Fever was defined as a single oral temperature ≥38 °C within 24 h of presentation. We collected data on &lt;/span&gt;patient characteristics and outcomes. Our primary outcome was radiographic pneumonia; our secondary outcome was whether a CXR was done or not. We defined radiographic pneumonia as a consolidation, &lt;/span&gt;pleural effusion, infiltrate, pneumonia, “infiltrate vs. &lt;/span&gt;atelectasis,” or possible pneumonia mentioned by the radiologist. SPSS was used for the statistical analysis.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;&lt;span&gt;&lt;span&gt;We reviewed a total of 664 medical charts and included data from 342 febrile pediatric patients in our analysis. Of these, 64 (18.7%) had a CXR performed. Overall, 16 (25%) had radiographic pneumonia while 48 (75%) did not. Patients were significantly more likely to have a CXR performed if they presented with upper respiratory tract symptoms, &lt;/span&gt;cough (&lt;/span&gt;&lt;em&gt;p&lt;/em&gt;&lt;span&gt; &lt; 0.001 for both), or abnormal lung auscultation at the bedside (&lt;/span&gt;&lt;em&gt;p&lt;/em&gt; = 0.004). Patients were also less likely to have a CXR done if they were asymptomatic upon admission to the PED (&lt;em&gt;p&lt;/em&gt; &lt; 0.001). However, neither cough nor shortness of breath nor abnormal lung examinations were significant predictors of a positive CXR (&lt;em&gt;p&lt;/em&gt; = 0.17, 0.43, and 0.669, respectively). Patients with radiographic pneumonia were found to be significantly younger (4.29 vs. 6 years, &lt;em&gt;p&lt;/em&gt; = 0.03), with a longer time since their last chemotherapy (15 vs. 7 days, &lt;em&gt;p&lt;/em&gt; = 0.005), and were given intravenous (IV) bolus in the PED (87.5% vs. 56.3%, &lt;em&gt;p&lt;/em&gt; = 0.02). Interestingly, patients with higher white blood cell (WBC) counts were more likely to have radiographic pneumonia (4850 vs. 1750, &lt;em&gt;p&lt;/e","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 380-386"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141635950","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}

{"title":"Trends in the prevalence of language disorders in 4-year-old children: Comparison of health assessment data in nursery schools in Val-de-Marne between the academic years 2018–2019 and 2021–2022","authors":"Marie-Laure Baranne,&nbsp;Barbara Azcona,&nbsp;Hélène Balloul,&nbsp;Patricia Goyenne,&nbsp;Alexandra Moutereau,&nbsp;Isabelle Buresi","doi":"10.1016/j.arcped.2024.01.001","DOIUrl":"10.1016/j.arcped.2024.01.001","url":null,"abstract":"<div><h3>Background</h3><div>In the Val-de-Marne department, health check-ups for children in the middle section of nursery school are carried out by the Maternal and Child Protection Service, and allow for the early detection of possible anomalies. Language is evaluated using the ERTL-4 test, which helps to identify a language disorder<span>. Using data collected from health check-ups, the objective of our work was to compare the rates of children referred for language disorder assessment between the academic years 2018–2019 and 2021–2022 as well as the associated risk factors.</span></div></div><div><h3>Method</h3><div>Children who underwent a health check-up during 2018–2019 and 2021–2022 were included. After a descriptive analysis, a logistic regression model was constructed with referral or no referral for a language disorder as a function of the academic year and possible risk or protective factors.</div></div><div><h3>Results</h3><div>Among the 36,816 health check-ups analyzed, the proportion of children referred for language disorder check-ups increased significantly by 3.3 % (<em>p</em> &lt; 0.001). The factors associated with this were male gender ([odds ratio] OR = 1.60, <em>p</em> &lt; 2.2e-16) and schooling in a priority education network (REP), (OR = 1.54, <em>p</em> &lt; 2.2e-16) or REP+ (OR = 2.76, <em>p</em> &lt; 2.2e-16). An association with other disorders was identified (<em>p</em> &lt; 2.2e-16).</div></div><div><h3>Conclusion</h3><div>This study shows that the proportion of children referred for language disorders has increased between the 2 academic years.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 365-368"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141728374","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}

{"title":"Frequency and management of rod fractures following minimally invasive bipolar fusionless surgery in neuromuscular scoliosis patients","authors":"Micaela Besse ,&nbsp;Mathilde Gaume ,&nbsp;Anibal Jose Sarotto ,&nbsp;Nejib Khouri ,&nbsp;Stéphanie Pannier ,&nbsp;Lotfi Miladi","doi":"10.1016/j.arcped.2024.04.004","DOIUrl":"10.1016/j.arcped.2024.04.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Neuromuscular scoliosis (NMS) is associated with an abnormal muscle tone. Traditional conservative treatments, with the historical practice of early posterior fusion, have proven ineffective. Recently, growth-sparing techniques have gained traction owing to their ability to maximize trunk height. However, these techniques have a substantial risk of complications, particularly rod breakage, with reported incidence rates ranging from 15 % to 42 %. The objective of this study was to conduct a descriptive analysis of NMS patients who experienced rod breakage following the minimally invasive fusionless surgery (MIFS) technique.</div></div><div><h3>Methods</h3><div>This was a single-center, retrospective study that included all NMS patients who underwent surgery between January 2015 and January 2021 and subsequently presented with rod breakage after MIFS. The MIFS technique is based on proximal fixation with double hook claws made of pedicular and -sus laminar hooks and pelvic fixation with iliosacral screws.</div></div><div><h3>Results</h3><div>The mean follow-up was 5.2 ± 2.2 years. The mean dominant etiology of NMS was cerebral palsy<span> (67 %). Of the 217 patients who underwent surgery, 15 (6.9 %) developed rod breakage. Rod breakage occurred 2.7 ± 1.3 years after the initial surgery. Four cases of rod fracture recurrence were reported in ambulatory patients with dystonia or hyperactivity.</span></div></div><div><h3>Conclusion</h3><div>Compared with other fusionless techniques, the minimally invasive bipolar technique appears promising for patients with NMS, with a lower rate of rod breakage. We recommend the use of a four-rod construct for ambulatory patients or for those with dystonia or hyperactivity.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 387-392"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604533","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}

{"title":"Nutritional rickets: Refusing to turn back the clock","authors":"Agnès Linglart,&nbsp;Andreas Werner,&nbsp;Patrick Tounian,&nbsp;Justine Bacchetta","doi":"10.1016/j.arcped.2024.07.001","DOIUrl":"10.1016/j.arcped.2024.07.001","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 351-352"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142116907","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}

{"title":"An unusual case of 17-hydroxylase deficiency presenting with short stature","authors":"Fatma Özgüç Çömlek ,&nbsp;Uğur Gümüş","doi":"10.1016/j.arcped.2024.03.007","DOIUrl":"10.1016/j.arcped.2024.03.007","url":null,"abstract":"<div><div><span>17α-Hydroxylase and 17,20-lyase are enzymes encoded by the </span><span><span>CYP17A1</span></span><span><span><span> gene and are necessary for the production of cortisol and sex steroids. Females with 17α-hydroxylase deficiency usually present with </span>primary amenorrhea<span><span> and delayed puberty<span> accompanied by hypertension and electrolyte imbalance<span>. Here, we report the case of a 14-year-old female patient who presented with severe short stature and delayed puberty without any complaint suggestive of 17-hydroxylase </span></span></span>enzyme deficiency. </span></span>Laboratory test<span><span><span><span> results showed low cortisol and </span>dehydroepiandrosterone sulfate<span> (DHEA-S) along with high luteinizing hormone (LH) and follicle-stimulating hormone (FSH). </span></span>Turner syndrome was excluded after </span>genetic analysis showed a 46,XX karyotype, and 17α-hydroxylase deficiency was diagnosed by detecting a c.1319G&gt;A (p.Arg440His) variation/alternation in the patient's </span></span><span><em>CYP17A1</em></span> gene.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 6","pages":"Pages 400-402"},"PeriodicalIF":1.3,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604532","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}