Gitelman's syndrome: report of one case.

Chan-Fai Chan, Shu-Chi Mu, Beng-Huat Lau, Chi-Jen Chang, Shin-Hua Lin
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引用次数: 0

Abstract

Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. We report an eight-year-old girl with incidental hypokalemia prior to appendectomy. All biochemical studies were consistent with GS. Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G > A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up.

吉特曼综合征1例报告。
Gitelman综合征(GS)是一种罕见的常染色体隐性肾小管疾病,以低钾血症、代谢性碱中毒、低镁血症和低钙尿为特征。其主要原因是远曲小管顶膜上噻嗪类药物敏感Na-Cl共转运体(NCC) SLC12A3基因突变失活所致。我们报告一个八岁的女孩偶然低钾血症阑尾切除术前。所有生化研究均与GS一致。NCC基因的遗传分析发现了两个新的突变(N442K和IVS6-1G > A)。在定期补充钾和镁的情况下,患者在两年的随访期间保持正常的生长发育。
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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