Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait
作者:
Tirza Cohen,
Rachel Theodor,
Ariel Rösler,
期刊:
Clinical Genetics
(WILEY Available online 1977)
卷期:
Volume 11,
issue 1
页码: 25-30
ISSN:0009-9163
年代: 1977
DOI:10.1111/j.1399-0004.1977.tb01273.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
A salt‐wasting syndrome associated with high plasma renin activity and inappropriately low aldosterone levels was observed among eight Jewish families from Iran. Aldosterone deficiency was due to an inborn error selectively involving the terminal portion of the biosynthetic pathway and characterized by an enzymic block in the conversion of 18‐hydroxycorticosterone to aldosterone. The analysis of the eight pedigrees, including 12 affected children, shows a high coefficient of inbreeding. Genetic analysis, by two independent methods, strongly suggests an autosomal recessive mode of transmission of the syndr
点击下载:
PDF
(355KB)
返 回