Table 3.
Clinical and molecular classification of primary aldosteronism due to germ-line mutations [10].
| Type | Prevalence% | Cytogenetic Location | Gene Mutation | Transmission | CT Findings | Treatment | Drug-Resistant Hypertension |
Clinical Features |
|---|---|---|---|---|---|---|---|---|
| FH-I | 0.5–1 | 8q24 | CYP11B2/CYP11B1, Chimeric | Autosomal dominant | BAH or APA | Low-dose dexamethasone | Possible (with drugs other than dexamethasone) | Early-onset PA, hybrid steroids, cerebrovascular events |
| FH-II | <1 | 3q27 | CLCN2 (R172Q, M22K, G24D, S865R, Y26 N) | Autosomal dominant | BAH or APA or no adrenal, abnormalities | MRAs | No | Early-onset PA |
| FH-III | <0.5 | 11q23 | KCNJ5 (T158A, I157S, E145Q, G151E, Y152C) | Autosomal dominant | BAH or no adrenal abnormalities | Bilateral, Adrenalectomy or MRAs | Yes | From mild PA form to severe early-onset PA |
| FH-IV | n.a. | 16p13 | CACNA1H (M1549V, S196L, P2083L, V1951E) | Autosomal dominant | Little or no adrenal, abnormalities | MRAs | No | Early-onset PA, mental retardation, social and development disorders |
| PASNA syndrome | n.a. | 3p14.3 | CACNA1D (I770 M, G403D) | Unknown | No adrenal abnormalities | Calcium channel, Blockers and MRAs | No | Early-onset PA, seizures, neurological abnormalities. No family occurrence reported thus far |
FH, familial hyperaldosteronsim; PASNA, PA with Seizure and Neurologic Abnormalities; CT, computed tomography; BAH, bilateral adrenal hyperplasia; APA, aldosterone producing adenoma; MRAs, mineralocorticoid receport antagonists; PA, primary aldosteronism; n.a., not available.