Preferred Label : Hyperkalemic Mineralocorticoid Resistance;
NCIt related terms : Chloride Shunt Syndrome; Mineralocorticoid Resistant Hyperkalemia; Pseudohypoaldosteronism, Type II; Spitzer-Weinstein Syndrome; PHA Type 2; Familial Hyperkalemic Hypertension; Gordon Hyperkalemia;
NCIt 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.;
Alternative definition : NICHD: 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(s).;
NCI Metathesaurus CUI : CL508173;
Origin ID : C126812;
UMLS CUI : C4288936;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- concept_is_in_subset
