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[儿童原发性肾小管功能障碍与身材矮小]

[Primary renal tubular dysfunction and short stature in children].

作者信息

Bangstad H J

机构信息

Barneavdelingen Aker sykehus, Oslo.

出版信息

Tidsskr Nor Laegeforen. 1996 Jun 30;116(17):2006-8.

PMID:8766641
Abstract

Impaired growth in children without constitutional growth delay or known chronical disease is often linked to endocrine or gastrointestinal disorders. A rare cause is primary renal tubular dysfunction. A brother and a sister who were diagnosed as having Barter's syndrome, later corrected to Gitelman's syndrome, are presented. Both of these syndromes include hypokalemia, hypochloremia, metabolic alkalosis, usually hypomagnesemia, increased activation of the renin-angiotensin-aldosterone system, normal blood pressure and impaired growth. Patients with the classical Bartter's syndrome are treated with potassium chloride and a prostaglandin synthesis inhibitor, and patients with Gitelman's syndrome with magnesium chloride supplementation. We emphasize that measurement of serum electrolytes should be included in the investigation of children with impaired growth.

摘要

在无体质性生长迟缓或已知慢性病的儿童中,生长发育受损通常与内分泌或胃肠道疾病有关。一种罕见的原因是原发性肾小管功能障碍。本文介绍了一对兄妹,他们最初被诊断为患有巴特综合征,后来纠正为吉特曼综合征。这两种综合征都包括低钾血症、低氯血症、代谢性碱中毒,通常还有低镁血症、肾素 - 血管紧张素 - 醛固酮系统激活增加、血压正常和生长发育受损。经典巴特综合征患者用氯化钾和前列腺素合成抑制剂治疗,吉特曼综合征患者补充氯化镁。我们强调,对于生长发育受损的儿童进行检查时应包括血清电解质测定。

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