Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pseudohypoaldosteronism

Pseudohypoaldosteronisms is characterized by metabolic acidosis and hyperkalemia as a result of kidney's inability to respond adequatly to aldosterone.

Clinical Findings

Besides metabolic acidosis and hyperkalimia, which are common to all types of pseudohypoaldosteronism, there are symptoms that vary. These symptoms are hypertension, plasma renin and aldosterone levels, as well as the type of inheritance (autosomal recessive or dominant).<br>The therapy also differs according to the underlying mutation.

Diagnosis

Verify a genetic origin by thoroughly excluding toxic tubulus damage or abuse of amiloride and triamterene. Reliable plasma renin and aldosterone levels and the type of inheritance allows to determine the subtype. This can significantly reduce time and cost, when undertaking molecular genetic analysis.

Differentials

The primary hereditary types (1 and 2) of pseudohypoaldosteronism have to be distinguished from type 3, or secondary aldosterone resistance. Massive salt losses through intestine or sweat seldom cause this form of pseudohypoaldosteronism. More often renal diseases are involved, such as obstructive uropathy, sickle cell and lead nephropathy and amyloidosis.

Systematic

Disorders of tubular solute transport
Genetic disorders of proximal tubular function
Hereditary Salt-wasting tubulopathies
Inherited disorders of calcium balance
Liddle syndrome
Nephrogenic diabetes insipidus
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Renal tubular acidosis

References:

1.

None (2003) Mendelian forms of human hypertension and mechanisms of disease.

[^]
2.

Bonny O et al. (2002) Disturbances of Na/K balance: pseudohypoaldosteronism revisited.

[^]
3.

None (2005) Mineralocorticoid resistance.

[^]
4.

Orphanet article

Orphanet ID 444916 [^]
5.

Wikipedia article

Wikipedia EN (Pseudohypoaldosteronism) [^]
Update: May 10, 2019