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. 2020 Apr 15;5:100029. doi: 10.1016/j.ijchy.2020.100029

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.