The Nature of the Defect in a Salt-Wasting Disorder in Jews of Iran12
- 1 February 1977
- journal article
- research article
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 44 (2) , 279-291
- https://doi.org/10.1210/jcem-44-2-279
Abstract
Studies in 8 families of Iranian Jews revealed 12 patients with selective aldosterone deficiency due to a biosynthetic defect. There was a marked range in clinical severity which varied from acute salt-wasting crisis in infancy to an asymptomatic state in adults detectable only by biochemical screening. Manifestations of intermediate degrees of severity included unexplained short stature and postural hypotension. This clinical variability in the manifestations of aldosterone deficiency was not due entirely to quantitative differences in hormone secretion but also to a changing pattern of requirement throughout life in which deficiency during the first year of life had grave consequences while a similar degree of deficiency in the adult was welltolerated, suggesting that the hormone was no longer essential. Most families came from a relatively isolated community in Isfahan with a high incidence of consanguinity and three were related. Aldosterone deficiency was due to an inborn error involving the terminal portion of the biosynthetic pathway and characterized by marked overproduction of glomerulosa zone 18-hydroxycorticosterone relative to aldosterone. The best diagnostic index was the excretory ratio of the major urinary metabolites of these steroids. This ratio, normally less than 3.0, was frequently greater than 100 in untreated patients with this defect. Plasma aldosterone was not a reliable index of the disorder since some patients achieved normal levels but at the expense of marked elevation in plasma renin activity and overproduction of precursors.Keywords
This publication has 16 references indexed in Scilit:
- A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECTActa Endocrinologica, 1964
- An Aldosterone Biosynthetic Defect in a Salt-Losing DisorderJournal of Clinical Endocrinology & Metabolism, 1964
- A Reversible Salt-wasting Syndrome of the Newborn and Infant: Possible Infantile HypoaldosteronismArchives of Disease in Childhood, 1963
- Identification of Two C18 Oxygenated Corticosteroids Isolated from Human UrineJournal of Biological Chemistry, 1962
- A simple fluorimetric method for the estimation of free 11-hydroxycorticoids in human plasmaJournal of Clinical Pathology, 1962
- Sodium Depletion in Adrenalectomized Humans1Journal of Clinical Investigation, 1958
- A SIMPLIFIED METHOD FOR THE ROUTINE DETERMINATION OF PREGNANEDIOL AND PREGNANETRIOL IN URINE1954
- Physiological effects of bilateral adrenalectomy in manCancer, 1952
- THE DETERMINATION OF URINARY STEROIDS. I. THE PREPARATION OF PIGMENT-FREE EXTRACTS AND A SIMPLIFIED PROCEDURE FOR THE ESTIMATION OF TOTAL 17-KETOSTEROIDSJournal of Clinical Endocrinology & Metabolism, 1952
- Experimental sodium chloride deficiency in manProceedings of the Royal Society of London. B. Biological Sciences, 1936