Article
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
The Journal of clinical endocrinology and metabolism - 1 Nov 1998
Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow K M, Pascoe L, Morel Y
Abstract excerpt
Isolated deficiencies in aldosterone biosynthesis are caused by mutations in the CYP11B2 (aldosterone synthase) gene. Patients with this deficiency have impaired aldosterone synthesis, exhibit increased plasma renin activity, secrete increased amounts of the steroid precursors DOC, corticosterone, and 18OHDOC, and are subject to salt wasting and poor growth. Two forms are generally distinguished. The first,...
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