Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pseudohypoaldosteronism type1

Pseudohypoaldosteronism type 1 is a salt wasting disorder with elevated plasma aldosterone and renin levels. Inheritance may be autosomal recessive or dominant.

Clinical Findings

As all types of pseudohypoaldosteronism metabolic acidosis and hyperkalemia are present. Additionally, elevated levels of renin and aldosterone are mandatory. Blood pressure is rather low. Dependent on what molecular structure is altered, autosomal recessive (aldosteronsensitive sodium channel) or dominant (mineralocorticoid receptor) inheritance ensues.<br>Therapy consists of life-long salt supplementation in cases due to non-functioning sodium channel. Cases with mineralocorticoid receptor mutation tend to remission in adulthood.

Diagnosis

The diagnosis of pseudohypoaldosteronism type 1 is likely when metabolic acidosis, and hyperkalemia are associated with elevated levels of aldosterone and renin. Additional findings are hypochloremia, hyponatremia, and a rather low blood pressure.<br> The type of inheritance is often difficult to determine, for most cases are spontaneous.

Pathogenesis

The main pathogenetic mechanisms are salt wasting and unresponsiveness to aldosterone. Disturbances in two molecular structures are responsible for the disease, the aldosterone-sensitive sodium channel, which is coded by three different genes, and the mineralocorticoid receptor.

Systematic

Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G

References:

1.

Luft FC et al. (2003) Mendelian forms of human hypertension and mechanisms of disease.

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2.

Geller DS et al. (2005) Mineralocorticoid resistance.

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Update: Sept. 26, 2018