Archives De Pediatrie最新文献

筛选
英文 中文
Immediate allergies to chlorhexidine: A series of pediatric cases from the French pharmacovigilance database 对洗必泰的直接过敏:法国药物警戒数据库中的一系列儿科病例:对洗必泰立即过敏:来自法国药物警戒数据库的一系列儿科病例。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.06.004
Claire Fontaine , Cécile Rochefort-Morel , Gwenaëlle Veyrac , Elisabeth Polard , Lucie-Marie Scailteux , French Pharmacovigilance Network
{"title":"Immediate allergies to chlorhexidine: A series of pediatric cases from the French pharmacovigilance database","authors":"Claire Fontaine ,&nbsp;Cécile Rochefort-Morel ,&nbsp;Gwenaëlle Veyrac ,&nbsp;Elisabeth Polard ,&nbsp;Lucie-Marie Scailteux ,&nbsp;French Pharmacovigilance Network","doi":"10.1016/j.arcped.2024.06.004","DOIUrl":"10.1016/j.arcped.2024.06.004","url":null,"abstract":"<div><h3>Background</h3><div>Immediate allergic reactions to chlorhexidine have been clearly identified in numerous countries, generating governmental warnings worldwide.</div></div><div><h3>Objectives</h3><div>The aim of our study was to characterize (i) these allergies, which are less reported in pediatric populations, and (ii) the patient-at-risk profile so as to suggest preventive measures.</div></div><div><h3>Methods</h3><div>In association with the allergy department and the regional pharmacovigilance center in Rennes University Hospital, France, a multicenter retrospective, descriptive, and observational study was conducted using data from the national pharmacovigilance database for the period of January 1, 2010 to June 30, 2020. Immediate allergies to chlorhexidine cases based on a clinical history compatible with an immunoglobulin E (IgE)-mediated reaction, along with positive allergic testing, were analyzed.</div></div><div><h3>Results</h3><div>Of the 478 cases identified, 17 pediatric cases of immediate allergic reaction to chlorhexidine (13 cases of grades II–IV anaphylaxis) were retained for the analysis. For 58.8 % of these cases, a history of a previous more moderate reaction to the substance was identified. The reactions occurred most frequently in cases of domestic misuse (88.2 %, <em>n</em> = 15/17) of chlorhexidine to dress a wound. Recurrence was reported for two cases, later leading to severe reactions at each new exposure to the allergen, suggesting an aggravation mechanism.</div></div><div><h3>Conclusion</h3><div>The number of pediatric cases of immediate allergies to chlorhexidine has possibly been underestimated on account of insufficient knowledge of the allergy and in view of its common usage. Information on the method of caring for wounds among children and on the risk of allergic sensitization as well as exploring any unusual reaction to chlorhexidine application could reduce the number of allergic reactions.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333019","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
Paradoxical metabolic acidosis after vomiting in children with spinal muscular atrophy: A report of 9 patients 脊髓性肌肉萎缩症患儿呕吐后出现的反常代谢性酸中毒:9例患者的报告。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.03.010
Fiona Bensoussan , Guillaume Costa , Anne Blanchard , Isabelle Vaugier , Stéphanie Baron , Aben Essid , Blaise Mbieleu , Awa Bakayoko , Nicolas Deconinck , Jean Bergounioux , Justine Zini
{"title":"Paradoxical metabolic acidosis after vomiting in children with spinal muscular atrophy: A report of 9 patients","authors":"Fiona Bensoussan ,&nbsp;Guillaume Costa ,&nbsp;Anne Blanchard ,&nbsp;Isabelle Vaugier ,&nbsp;Stéphanie Baron ,&nbsp;Aben Essid ,&nbsp;Blaise Mbieleu ,&nbsp;Awa Bakayoko ,&nbsp;Nicolas Deconinck ,&nbsp;Jean Bergounioux ,&nbsp;Justine Zini","doi":"10.1016/j.arcped.2024.03.010","DOIUrl":"10.1016/j.arcped.2024.03.010","url":null,"abstract":"<div><h3>Background</h3><div>Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease that progresses toward restrictive respiratory failure due to muscle paralysis. We observed that SMA patients presented with a specific clinical and laboratory profile, consisting of severe metabolic acidosis following an episode of mild vomiting. This is an unusual, little-known, and life-threatening situation for these patients, as hyperventilation induced by metabolic acidosis can lead to exhaustion and to death by mixed acidosis.</div></div><div><h3>Objective</h3><div>The aim of our study was to describe this paradoxical acidosis after vomiting in SMA patients and to discuss the physiological basis of this condition.</div></div><div><h3>Methods</h3><div>We conducted a retrospective single-center study reviewing the clinical and laboratory data of SMA patients who were hospitalized in the intensive care unit for severe metabolic acidosis after vomiting.</div></div><div><h3>Results</h3><div>Our cohort comprised 11 cases. On arrival, the median pH of the patients was 7.23 with a median bicarbonate concentration of 11.7 mmol/L and almost half of them (45 %) had ketone bodies in the blood and/or urine. The median correction time was 24 h for pH and 48 h for bicarbonate concentrations after receiving intravenous hydration with a glucose solution.</div></div><div><h3>Conclusions</h3><div>We suggest that SMA patients are particularly sensitive to ketoacidosis induced by fasting, even after a few episodes of mild vomiting. Moreover, they have a low buffering capacity due to their severe amyotrophy, which favors metabolic acidosis. They must be quickly hydrated through a glucose-containing solution to avoid exhaustion, mixed acidosis, and death.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333020","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
Quality of life of chronically ill children and adolescents: a cross-sectional study 慢性病儿童和青少年的生活质量:一项横断面研究。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.04.007
Pauline Perreard , Sarah Castets , Karine Aouchiche , Delphine Bernoux , Daniele Bruno , Mathilde Cailliez , Stéphanie Clave , Marie-Edith. Coste , Cécile De Leusse , Pauline Duvant , Florentine Garaix , Laetitia Gauche , Emeline Marquant , Céline Roman , Bertrand Roquelaure , Caroline Rousset Rouvière , Julia Vergier , Michel Tsimaratos , Julie Berbis , Alexandre Fabre , Rachel Reynaud
{"title":"Quality of life of chronically ill children and adolescents: a cross-sectional study","authors":"Pauline Perreard ,&nbsp;Sarah Castets ,&nbsp;Karine Aouchiche ,&nbsp;Delphine Bernoux ,&nbsp;Daniele Bruno ,&nbsp;Mathilde Cailliez ,&nbsp;Stéphanie Clave ,&nbsp;Marie-Edith. Coste ,&nbsp;Cécile De Leusse ,&nbsp;Pauline Duvant ,&nbsp;Florentine Garaix ,&nbsp;Laetitia Gauche ,&nbsp;Emeline Marquant ,&nbsp;Céline Roman ,&nbsp;Bertrand Roquelaure ,&nbsp;Caroline Rousset Rouvière ,&nbsp;Julia Vergier ,&nbsp;Michel Tsimaratos ,&nbsp;Julie Berbis ,&nbsp;Alexandre Fabre ,&nbsp;Rachel Reynaud","doi":"10.1016/j.arcped.2024.04.007","DOIUrl":"10.1016/j.arcped.2024.04.007","url":null,"abstract":"<div><h3>Objective</h3><div>The aim of this study was to describe the quality of life (QoL) of children with a chronic illness treated in a tertiary multidisciplinary pediatric department in comparison with the general population.</div></div><div><h3>Study design</h3><div>A cross-sectional study was conducted in the tertiary multidisciplinary (nephrology, hepatogastroenterology, endocrinology, diabetology, transplantation) pediatric department of Timone Hospital in Marseille, France. Patients 8–17 years of age with a chronic disease were included during regular follow-up appointments. Medical and sociodemographic variables were obtained from medical records. Self-reported QoL was assessed using the VSPA (<em>Vécu et Santé Perçu de l'Adolescent</em>) questionnaire and parent-reported QoL was assessed using the VSPA questionnaire for parents.</div></div><div><h3>Results</h3><div>A total of 244 patients were included. Overall QoL did not differ significantly from that of the general population. Adolescent patients’ self-reported QoL scores were lower than those of the general population in the domains of physical health and leisure, and parents reported QoL scores for adolescent patients lower than those of the general population for self-esteem and physical health. Adolescents’ self-reported QoL scores were higher than in the general population for relationships with parents, healthcare professionals, and teachers as well as for school achievement. Parents also reported higher QoL scores in these areas for their children.</div></div><div><h3>Conclusion</h3><div>Children and adolescents with a variety of chronic diseases had similar overall QoL scores to the general population but with different QoL profiles; their scores in some domains were higher than those of the general population.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301749","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
Vaginal screening for group B streptococcus using PCR in pregnant women with unknown colonization status: Impact on newborn monitoring for early-onset sepsis 使用 PCR 对定植状况不明的孕妇进行 B 群链球菌阴道筛查:对新生儿早期败血症监测的影响。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.05.002
Anne Laure Blanquart , Fabien Garnier , Thomas Lauvray , Perrine Coste Mazeau , Sophie Martinez , Cyrille Catalan , Vincent Guigonis , Antoine Bedu , Fabienne Mons , Laure Ponthier
{"title":"Vaginal screening for group B streptococcus using PCR in pregnant women with unknown colonization status: Impact on newborn monitoring for early-onset sepsis","authors":"Anne Laure Blanquart ,&nbsp;Fabien Garnier ,&nbsp;Thomas Lauvray ,&nbsp;Perrine Coste Mazeau ,&nbsp;Sophie Martinez ,&nbsp;Cyrille Catalan ,&nbsp;Vincent Guigonis ,&nbsp;Antoine Bedu ,&nbsp;Fabienne Mons ,&nbsp;Laure Ponthier","doi":"10.1016/j.arcped.2024.05.002","DOIUrl":"10.1016/j.arcped.2024.05.002","url":null,"abstract":"<div><h3>Background</h3><div>Early-onset neonatal sepsis represents a diagnostic challenge, as it is a cause of neonatal mortality and morbidity. Guidelines for the prevention of group B streptococcus (GBS) infection recommend that all pregnant women must be screened for GBS carriage at the end of pregnancy, with intrapartum antibiotic prophylaxis being provided for GBS carriers. If vaginal culture is not available, GBS polymerase chain reaction (GBS-PCR) is an alternative option for this type of screening. In our unit, GBS-PCR is performed when pregnant women present to the delivery room with ongoing labor and with no results of culture GBS screening available. The main objective of this study was to evaluate the impact of the results of GBS-PCR on monitoring modifications in newborns of mothers with unknown GBS status. The secondary objectives were to confirm the feasibility of a GBS-PCR-based screening method in everyday practice and to evaluate the impact of GBS-PCR results on the modification of intrapartum antibiotic therapy in pregnant women.</div></div><div><h3>Method</h3><div>A retrospective, single-center, observational study was conducted for 1 year. For dyads with GBS-PCR performed, changes concerning intrapartum antibiotic therapy and the newborn's monitoring were recorded. The feasibility of the method was evaluated by the delay between the GBS-PCR realization and the availability of the result; in addition, the number of GBS-PCR tests that could not be realized were collected.</div></div><div><h3>Results</h3><div>Overall, 60 GBS-PCR samples were tested for 60 pregnant women. Results were obtained for all samples, and the median duration to obtaining the GBS-PCR results was 70 min (60.8–87.2). These results were positive for 11 (18.3 %) women and led to monitoring modifications for two infants. In total, 27 pregnant women (45 %) had modifications in their antibiotic therapy due to the GBS-PCR results.</div></div><div><h3>Conclusion</h3><div>GBS-PCR was quickly available and the results led to changes in maternal antibiotic prophylaxis and in the monitoring level of the newborns.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology 杜氏肌营养不良症长期皮质类固醇治疗的化合物选择、剂量和副作用管理:法国儿科神经病学协会神经肌肉委员会指南》。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.05.003
Stéphanie Fontaine Carbonnel , Ivana Dabaj , Camille de Montferrand , Pascal Rippert , Vincent Laugel , Silvana De Lucia , Claudia Ravelli , Andreea Seferian , Juliette Ropars , Claude Cances
{"title":"Choice of compound, dosage, and management of side effects for long-term corticosteroid treatment in Duchenne muscular dystrophy: Guidelines from the Neuromuscular Commission of the French Society of Pediatric Neurology","authors":"Stéphanie Fontaine Carbonnel ,&nbsp;Ivana Dabaj ,&nbsp;Camille de Montferrand ,&nbsp;Pascal Rippert ,&nbsp;Vincent Laugel ,&nbsp;Silvana De Lucia ,&nbsp;Claudia Ravelli ,&nbsp;Andreea Seferian ,&nbsp;Juliette Ropars ,&nbsp;Claude Cances","doi":"10.1016/j.arcped.2024.05.003","DOIUrl":"10.1016/j.arcped.2024.05.003","url":null,"abstract":"<div><div>The French Society of Pediatric Neurology and the FILNEMUS network created a working group on corticosteroid therapy in children with Duchenne muscular dystrophy in order to analyze the literature review and current French practices. The aim of this work was to produce guidelines regarding treatment initiation, pre-therapeutic interventions, choice between available compounds, and treatment monitoring (dosage, duration, and discontinuation). The treatment side effects and their management are also detailed: osteoporosis, endocrinological anomaly (growth delay, weight gain, pubertal delay), cataract, arterial hypertension, behavioral disorders, management of immunosuppression and vaccines, and management of gastrointestinal and metabolic complications.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333018","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
Parental knowledge about respiratory syncytial virus and attitudes toward infant immunization with monoclonal antibodies in France. 法国家长对呼吸道合胞病毒的了解以及对婴儿接种单克隆抗体的态度。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-09-10 DOI: 10.1016/j.arcped.2024.07.003
Gitte Lee Mortensen, Marie-Laure Charkaluk
{"title":"Parental knowledge about respiratory syncytial virus and attitudes toward infant immunization with monoclonal antibodies in France.","authors":"Gitte Lee Mortensen, Marie-Laure Charkaluk","doi":"10.1016/j.arcped.2024.07.003","DOIUrl":"https://doi.org/10.1016/j.arcped.2024.07.003","url":null,"abstract":"<p><strong>Background and aim: </strong>Respiratory syncytial virus (RSV) is a leading cause of hospitalization of infants with respiratory infections. A new immunization using monoclonal antibodies (mAbs) may offer protection against RSV infections. A study was conducted across eight countries to gain insight into parental awareness of RSV, their sources of child health information, and attitudes toward infant immunization against RSV using mAbs. This paper presents the findings from France.</p><p><strong>Methods: </strong>In 2021, a survey was conducted in eight countries among expecting and current parents with children younger than 24 months of age. Eligible respondents included parents who were open to childhood immunizations, i.e., they had given or planned to give their children \"all,\" \"most,\" or \"some\" immunizations.</p><p><strong>Results: </strong>In France, the survey respondents had high adoption rates for childhood immunizations. Key drivers behind these high rates were the desire to protect their children from severe diseases and adherence to mandatory immunizations, whereas concerns about safety were the main barriers. While general practitioners and pediatricians were key sources of advice on child health, many parents also requested information about immunizations from health authorities and nurses. Sources of advice varied with parental age, gender, educational level, and income. The majority of parents had no knowledge about mAbs or passive immunization, and the overall awareness of RSV was low. When informed about RSV and mAbs, most parents held neutral to positive attitudes toward nirsevimab for their infants if recommended by a healthcare professional and/or included in the immunization program. These findings were further confirmed by the 60 %-80 % uptake rates of nirsevimab following the introduction in September 2023.</p>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301748","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
Title Page 标题页
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-09-01 DOI: 10.1016/S0929-693X(24)00147-7
{"title":"Title Page","authors":"","doi":"10.1016/S0929-693X(24)00147-7","DOIUrl":"10.1016/S0929-693X(24)00147-7","url":null,"abstract":"","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142326903","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
Generalized Arterial Calcification of Infancy (GACI) 婴儿期全身动脉钙化(GACI)
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-09-01 DOI: 10.1016/S0929-693X(24)00153-2
Geneviève Baujat , Alix Besançon
{"title":"Generalized Arterial Calcification of Infancy (GACI)","authors":"Geneviève Baujat ,&nbsp;Alix Besançon","doi":"10.1016/S0929-693X(24)00153-2","DOIUrl":"10.1016/S0929-693X(24)00153-2","url":null,"abstract":"<div><div>Generalized arterial calcification of infancy (GACI) is an ultra-rare autosomal recessive disorder associated with pathogenic variants in ENPP1, the major gene involved in this condition, and in ABCC6, which is involved in a small fraction of affected individuals. Loss-of-function pathogenic variants of <em>ENPP1</em> and <em>ABCC6</em> lead to perturbations in the PPi/Pi ratio, thereby promoting hydroxyapatite mineralization in peripheral tissues. GACI is initially characterized by an abnormal ectopic mineralization process in arteries and soft tissue. Nearly half of the patients die within the first 6 months of life from cardiovascular complications, hence the poor prognosis associated with an early diagnosis. In recent years, progress has been made in our understanding of the long-term natural history of GACI, the intricate symptoms due to vascular calcifications, the overmineralization of soft tissues, of hypophosphatemia designated as ARHR2, and of the consequences such as undermineralization of the skeleton, but also of the features possibly seen in pseudoxanthoma elasticum (PXE). Indeed, GACI, PXE, and ARHR2 share common pathophysiological pathways and clinical features beyond the vascular calcifications. Treatment options for severe forms of GACI are mostly based on symptomatic management, including the option of starting bisphosphonates early after birth, such as etidronate and pamidronate, analogues of PPi. Follow-up within an expert and coordinated multidisciplinary team includes treatment of arterial hypertension, calcitriol and phosphorus adjustments, hearing aids, and early detection of possible angioid streaks. It is hoped that ongoing basic and clinical research will lead to the development of effective therapies that specifically target the abnormal PPi regulation and the other mechanisms involved in this disorder.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142327137","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
Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2) ENPP1缺乏症导致的常染色体隐性低磷血症2型佝偻病(ARHR2)
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-09-01 DOI: 10.1016/S0929-693X(24)00154-4
Thomas Edouard , Agnès Linglart
{"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":null,"pages":null},"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}
引用次数: 0
Biology of bone mineralization and ectopic calcifications: the same actors for different plays 骨矿化和异位钙化生物学:同剧不同角
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-09-01 DOI: 10.1016/S0929-693X(24)00151-9
Marie-Hélène Lafage-Proust , David Magne
{"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":null,"pages":null},"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}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信