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
			CLCN2
		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).

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

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

4.	Orphanet article Orphanet ID 403

5.	Wikipedia article Wikipedia EN (Hyperaldosteronism)