Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hyperaldosteronism

Aldosteronism is characterized by hight aldosterone levels accompanied by the typical clinical symptoms, such as hypertension, water retention, and hypokalemia.

Classification

Four types of familial aldosteromism are characterized so far, but only type 1, 3, and 4 can be tested genetically. Aldosterone producing adenomas result from somatic mutations in adrenal cells.

Epidemiology

Only in 2% of cases, hypertension is due to primary aldosteronism, which largely results from aldosterone producing adenoma or bilateral adrenal hyperplasia.

Diagnosis

In patients with hypertension and low serum potassium levels, as well as height aldosterone and low renin levels, hyperaldosteronism should be considered.

Systematic

Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
Pseudohyperaldosteronism
Pseudohypoaldosteronism

References:

1.

Lafferty AR et al. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).

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2.

Torpy DJ et al. (1998) Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene.

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3.

None (2016) Genetic disorders in primary aldosteronism-Familial and somatic.

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4.

Orphanet article

Orphanet ID 403 [^]
5.

Wikipedia article

Wikipedia EN (Hyperaldosteronism) [^]
Update: April 29, 2019