Familial hyperaldosteronism type III

Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4...

Full description

Saved in:
Bibliographic Details
Published in:Journal of human hypertension 2017-12, Vol.31 (12), p.776-781
Main Authors: Monticone, S, Tetti, M, Burrello, J, Buffolo, F, De Giovanni, R, Veglio, F, Williams, T A, Mulatero, P
Format: Article
Language:English
Subjects:
45
45/23
692/308/2056
692/699/2743/1279
692/699/75/243
Adrenalectomy
Aldosterone
Analysis
Calcium (intracellular)
Complications and side effects
Diabetes insipidus
Diagnosis
Disease management
Endocrine disorders
Epidemiology
G Protein-Coupled Inwardly-Rectifying Potassium Channels - genetics
Gene mutation
Genetic aspects
Health Administration
Humans
Hyperaldosteronism
Hyperaldosteronism - genetics
Hyperaldosteronism - therapy
Hypertension
Hypokalemia
Ion currents
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Patients
Phenotype
Physiological aspects
Potassium
Potassium channels (inwardly-rectifying)
Public Health
review
Risk factors
Sodium
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Primary aldosteronism is the most common form of endocrine hypertension. This disorder comprises both sporadic and familial forms. Four familial forms of primary aldosteronism (FH-I to FH-IV) have been described. FH-III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4 (also called GIRK4). These mutations alter the selectivity filter of the channel and lead to abnormal ion currents with loss of potassium selectivity, sodium influx and consequent increased intracellular calcium that causes excessive aldosterone biosynthesis. To date, eleven families have been reported, carrying six different mutations. Although the clinical features are variable, FH-III patients often display severe hyperaldosteronism with an early onset, associated with hypokalemia and diabetes insipidus-like symptoms. In most cases FH-III patients are resistant to pharmacological therapy and require bilateral adrenalectomy to control symptoms. In the present manuscript, we review the genetics and pathological basis of FH-III, the diagnostic work-up, clinical features and therapeutic management. Finally, we will describe a new case of FH-III of an Italian patient carrying a Gly151Arg mutation.
ISSN:0950-9240
1476-5527
DOI:10.1038/jhh.2017.34