Key result
Selective hypoaldosteronism in Iranian Jews is caused by an inborn error in the conversion of 18-hydroxy-corticosterone to aldosterone and is transmitted as an autosomal recessive trait.
Observational (n=12)
The study identifies an autosomal recessive salt-wasting syndrome in Iranian Jews caused by a specific enzymatic block in the terminal portion of the aldosterone biosynthetic pathway.
May guide evaluation of hypoaldosteronism in Iranian Jews; leaves open molecular gene identification and population screening.
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 bio-synthetic pathway and characterized by an enzymic block in the conversion of 18-hydroxy-corticosterone 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 syndrome.
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Cohen et al. (1977) conducted an observational in Selective hypoaldosteronism (salt-wasting syndrome) (n=12). Inborn error of aldosterone biosynthesis was evaluated on Mode of transmission and enzymatic block. Selective hypoaldosteronism in Iranian Jews is caused by an inborn error in the conversion of 18-hydroxy-corticosterone to aldosterone and is transmitted as an autosomal recessive trait.
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