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Type 1 aldosterone synthase deficiency presenting in a middle-aged man
K M Kayes-Wandover1, R E Schindler, H C Taylor
1Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063, USA.
The Journal of Clinical Endocrinology and Metabolism
|March 10, 2001
Summary
Aldosterone synthase deficiency, a rare genetic disorder, can manifest in adulthood with hyperkalemia. This condition, caused by CYP11B2 gene mutations, is often linked to childhood failure to thrive.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Aldosterone synthase deficiency, caused by CYP11B2 gene mutations, typically presents in infancy with electrolyte imbalances and failure to thrive.
- Adults with this condition are generally asymptomatic, making late-onset presentation rare.
Observation:
- A middle-aged patient presented with hyperkalemia, with a history of failure to thrive in infancy.
- Biochemical analysis revealed elevated plasma renin activity (PRA) with low serum and urinary aldosterone and its metabolites, alongside normal or slightly elevated 18-hydroxycorticosterone levels.
Findings:
- The patient was diagnosed with type 1 aldosterone synthase deficiency.
- Genetic analysis identified a homozygous duplication in the CYP11B2 gene, resulting in an inactive aldosterone synthase enzyme.
- Functional studies confirmed the enzyme's complete inactivity due to the identified mutation.
Implications:
- Aldosterone synthase deficiency is an uncommon cause of hyperreninemic hypoaldosteronism presenting in adulthood.
- Suspicion should be raised in adults with hyperreninemic hypoaldosteronism if there is a history of childhood failure to thrive or no other identifiable cause.
- This case highlights the importance of considering genetic disorders in atypical presentations of endocrine conditions.