Hyperkalemic Mineralocorticoid Resistance

**Semantic type:** Finding

**Definition:** A genetically heterogenous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4), regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid.

**Synonyms:** - Chloride Shunt Syndrome - Familial Hyperkalemic Hypertension - Gordon Hyperkalemia - Mineralocorticoid Resistant Hyperkalemia - PHA Type 2 - Pseudohypoaldosteronism, Type II - Spitzer-Weinstein Syndrome