Definition and Characteristics
Decreased plasma aldosterone levels and elevated plasma renin (activity) levels, leading to a salt-wasting syndrome in the first weeks of life in children with congenital hypoaldosteronism. In secondary and tertiary adrenal insufficiency, plasma renin activity levels may be normal or low, as opposed to primary adrenal insufficiency with low or undetectable aldosterone and high plasma renin activity levels [1,2].
Prevalence
Unknown but presumably higher frequency of aldosterone synthase deficiency typ II than of type I; the estimated incidence of 21-hydroxylase deficiency is about one in 14,200 live births; congenital adrenal hypoplasia occurs in about one of 12,500 births; adrenoleukodystrophy affects about 1 in 20,000 males.
Genes
Autosomal recessively inherited defects in CYP11B or CYP21A2; X-linked recessive inheritance with gene location on Xq28 in adrenoleukodystrophy; in the X-linked forms of congenital adrenal hypoplasia the gene is located on Xp21...
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References
Kokko J (1985) Primary acquired hypoaldosteronism. Kidney Int 27:690–702
Orth DN, Kovacs WJ (1998) The adrenal cortex. In: Wilson JD, Foster DW, Kronenberg HM, Larsen PR (eds) Williams textbook of endocrinology, 9th edn. WB Saunders, Philadelphia, PA
Peter M, Sippel WG (1996) Congenital hypoaldosteronism. The Visser-Cost syndrome revisited. Pediatr Rev 39:554–560
Veldhuis JD, Melby JC (1986) Isolated aldosterone deficiency in man: acquired and inborn errors in the biosynthesis or action of aldosterone. Endocr Rev 2:495–517
Visser HKA, Cost WS (1964) A new hereditary defect in the biosynthesis of aldosterone: urinary C21-corticosteroid pattern in three related patients with a salt-wasting syndrome, suggesting an 18-oxidation defect. Acta Endocrinol Copenh 47:589–612
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Koch, C.A. (2009). Hypoaldosteronism. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_884
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DOI: https://doi.org/10.1007/978-3-540-29676-8_884
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-67136-7
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