ReviewGenetic disorders in primary aldosteronism-familial and somatic

- Familial hyperaldosteronism type 1 (FH-1) is rare (<1% of PA) and well characterized.
- FH-2 is much more common, but its genetic basis largely unclear.
- FH-3 is rare, and reflects germline or spontaneous ion channel mutations.
- Somatic mutations in ion channels or ATPases currently account for ∼60% of APA.

Familial hyperaldosteronism has been with us for 50 years, and somatic mutations responsible for aldosterone producing adenomas for five. This brief review covers advancement in each of these genetic bases of primary aldosteronism over these very different time scales, focusing on diagnosis, management and unanswered questions. Given the increasing clinical recognition of primary aldosteronism as public health issue, its heightened risk profile and the availability of targeted surgical/medical treatment, many of the current questions posed may be answered over the next five years.