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Pseudohypoaldosteronism
Clinical feature:
Definition: Pseudohypoaldosteronisms is characterized by metabolic acidosis and hyperkalemia as a result of kidney's inability to respond adequatly to aldosterone.
Clinical picture: 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).
The therapy also differs according to the underlying mutation.
Diagnostics:
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.
Differential: 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.
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