Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension

Abstrakt

A substantial proportion of APAs resembling adrenal zona glomerulosa cells harbor gain-of-function mutations in genes important for the regulation of Na+ and Ca2+, ATP1A1 and CACNA1D, respectively. Mutations in both genes appear to be more common in cohorts enriched for smaller, zona glomerulosa-like APAs, highlight-ing the notion that diagnosis should not rely on finding a definite nodule upon adrenal imaging.

Klíčová slova

• arterial hypertension
• aldosteronism
• adrenal adenoma
• calcium channels
• genetics
• somatic mutations