Article
Type 1 aldosterone synthase deficiency presenting in a middle-aged man.
The Journal of clinical endocrinology and metabolism - 1 Mar 2001
Kayes-Wandover K M, Schindler R E, Taylor H C, White P C
Abstract excerpt
Aldosterone synthase deficiency due to mutations in the CYP11B2 gene usually presents in infancy with electrolyte abnormalities and failure to thrive, whereas affected adults are usually asymptomatic. We describe a patient who first came to medical attention in middle age when he developed hyperkalemia after preparation for a barium enema. Past medical history was notable for failure to thrive in infancy. He had...
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