Complex glycerol kinase deficiency: A case report.

IF 0.7 4区 医学 Q4 PEDIATRICS
Archivos argentinos de pediatria Pub Date : 2025-04-01 Epub Date: 2024-11-07 DOI:10.5546/aap.2024-10354.eng
Mauro Islas Abdenur
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引用次数: 0

Abstract

Glycerol kinase deficiency is a rare X-linked genetic disorder, which may be associated with adrenal hypoplasia congenita and Duchenne muscular dystrophy. Here we describe a complex pediatric case of adrenal insufficiency with persistent hyponatremia and hyperkalemia despite an adequate management with corticosteroids, hypertriglyceridemia since birth, and chronic malnutrition in nutritional recovery. No cases have been reported in the Argentine literature, which increases the relevance of this case in pediatric clinical practice due to its unusual presentation.

复合甘油激酶缺乏症:病例报告。
甘油激酶缺乏症是一种罕见的X连锁遗传疾病,可能与先天性肾上腺发育不全和杜氏肌营养不良症有关。我们在此描述了一例复杂的肾上腺功能不全儿科病例,尽管使用皮质类固醇进行了适当的治疗,该病例仍伴有持续的低钠血症和高钾血症、出生后即出现的高甘油三酯血症以及营养恢复期的慢性营养不良。阿根廷的文献中还没有关于该病例的报道,因此该病例在儿科临床实践中的重要性因其不寻常的表现而得到了提高。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.40
自引率
25.00%
发文量
286
审稿时长
6-12 weeks
期刊介绍: Archivos Argentinos de Pediatría is the official publication of the Sociedad Argentina de Pediatría (SAP) and has been published without interruption since 1930. Its publication is bimonthly. Archivos Argentinos de Pediatría publishes articles related to perinatal, child and adolescent health and other relevant disciplines for the medical profession.
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