Archives De Pediatrie最新文献

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Breastfeeding and return to work at a teaching hospital 教学医院的母乳喂养和重返工作岗位。
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.07.004
Mathilde Bodolec , Moriamo-Bisi Eniafe-Eveillard , Brice Loddé , Sanna Ouedraogo , Laurence Pougnet , Anne Moal , Richard Pougnet
{"title":"Breastfeeding and return to work at a teaching hospital","authors":"Mathilde Bodolec ,&nbsp;Moriamo-Bisi Eniafe-Eveillard ,&nbsp;Brice Loddé ,&nbsp;Sanna Ouedraogo ,&nbsp;Laurence Pougnet ,&nbsp;Anne Moal ,&nbsp;Richard Pougnet","doi":"10.1016/j.arcped.2024.07.004","DOIUrl":"10.1016/j.arcped.2024.07.004","url":null,"abstract":"<div><div>In France, return to work represents a break in the continuation of breastfeeding, especially for caregivers. The objective of this study was to describe the breastfeeding practices of hospital workers. From 378 respondents, the prevalence of breastfeeding was found to be 69 % when leaving the maternity ward, 36.5 % when returning to work, and 20.1 % at 6 months. The average duration of breastfeeding was 23.3 weeks. In total, 44 % of breastfeeding women said they stopped breastfeeding because of their work: workload, irregular hours, no breastfeeding room, and fatigue.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 7","pages":"Pages 467-469"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142333017","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
The relationship between chronotype and mental toughness in adolescents: Is resilience a mediator? 青少年的时间型与心理韧性之间的关系:复原力是中介吗?
IF 1.3 4区 医学
Archives De Pediatrie Pub Date : 2024-10-01 DOI: 10.1016/j.arcped.2024.06.001
Esra Uslu , Hülya Çelik Özdemir , Türkan Peşkirci
{"title":"The relationship between chronotype and mental toughness in adolescents: Is resilience a mediator?","authors":"Esra Uslu ,&nbsp;Hülya Çelik Özdemir ,&nbsp;Türkan Peşkirci","doi":"10.1016/j.arcped.2024.06.001","DOIUrl":"10.1016/j.arcped.2024.06.001","url":null,"abstract":"<div><h3>Objective</h3><div>This study was designed to examine the mediator role of resilience in the relationship between chronotype and mental toughness in adolescents.</div></div><div><h3>Methods</h3><div>The descriptive correlational study was completed with 342 high school students from one school in Türkiye (mean age 17.25±1.11 years). Data were collected with the Morningness–Eveningness Scale for Children, Child and Youth Resilience Measure, and Mental Toughness Scale for Adolescents. Hierarchical regression analyses with PROCESS Model 4 were used to evaluate the mediator effect.</div></div><div><h3>Results</h3><div>It was observed that the morning chronotype tendency increased resilience (<em>p</em> &lt; 0.001) mental toughness (<em>p</em> &lt; 0.001). Higher resilience led to increased mental toughness. When the mediation effect was examined, resilience was a full mediator in the relationship between chronotype characteristics and mental toughness (β=0.396; <em>p</em> = 0.000).</div></div><div><h3>Conclusions</h3><div>According to these results, a morning chronotype tendency in adolescents increases their resilience and, therefore, mental toughness. These results suggest that effective methods for enhancing mental toughness in adolescents should be multifaceted. Additionally, it highlights the importance of identifying and regulating chronotype tendencies among adolescents, while also emphasizing the need to increase resilience in this demographic.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"31 7","pages":"Pages 446-450"},"PeriodicalIF":1.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301750","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
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":"31 7","pages":"Pages 419-425"},"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":"31 7","pages":"Pages 451-454"},"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
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":"31 7","pages":"Pages 410-418"},"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
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":"31 7","pages":"Pages 439-445"},"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":"31 7","pages":"Pages 461-466"},"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
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":"31 4","pages":"Page i"},"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":"31 4","pages":"Pages 4S21-4S26"},"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":"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}
引用次数: 0
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