Aldosterone synthase deficiency type I:: Hormonal and genetic analyses of two cases

被引：4

作者：

López-Siguero, JP

García-García, E

Peter, M

Sippell, WG

机构：

[1] Hosp Materno Infantil, E-20911 Malaga, Spain

[2] Univ Kiel, Childrens Clin, Dept Pediat, Kiel, Germany

来源：

HORMONE RESEARCH | 1999年 / 52卷 / 06期

关键词：

aldosterone synthase deficiency type I multisteroid analysis; amino acid substitution;

D O I：

10.1159/000023500

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Two female infants with clinical and biochemical findings of mineralocorticoid deficiency are presented. Both cases were diagnosed with aldosterone synthase type-1 deficiency by multisteroid analysis, Two different mutations were located in the CYP11B2 gene: two homozygous amino acid substitutions (E188D and V386A) in case 1, and one heterozygous substitution (L324Q) and one heterozygous stop mutation (Y265X) in case 2, Copyright (C) 2000 S. Karger AG, Basel.

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页码：298 / 300

页数：3

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