Salt wasting syndrome

SIADH (should distinguish between cerebral salt-wasting syndrome in which patients are volume-contracted)... 

R19. Russell, A., Levin, B., Sinclair, L., and Oberholzer, V. G., A reversible salt-wasting syndrome of the newborn and infant. Possible infantile hypoaldosteronism. Arch. Disease Childhood 38, 313-325 (1963). 

As mentioned earlier, the incidence of defects is relatively frequent and the ability to form cortisol is a problem. At least 56 different mutations have been identified . Patients who cannot synthesize sufficient aldosterone may lose sodium balance and can develop a fatal salt-wasting syndrome. Treatment involves administration of mineralocorticoids and glucocorticoids. Females with severe, classic P450 21A2 deficiency are... 

As in the case of the CYPllBl gene, many CY-P11B2 variants have now been defined from chn-ical studies. For review, see [2071]. The many variants [2072, 2073] have been related to a number of diseases, including congenital hypoal-dosterism [2074], salt-wasting syndrome [2075], adenoma [2076, 2077], treatment for diabetic nephropathy [2078], high-altitude pulmonary edema [2079,2080], metabolic syndrome [2081], hypertension [2082-2095], stroke [2096], atrial fibrillation [2097], and other cardiovascular risks [2098]. 

Some individuals with 21-hydroxylase deficiency do not manifest any developmental abnormaUties or salt wasting, but they present with signs of androgen excess. Tins clinical syndrome, referred to as nonclassic, adult-onset, or late-onset CAH, may be indistinguishable from PCOS (see also Chapter 50)7 ... 

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