Rare autosomal disorder of renal electrolyte transport dysfunctions. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Loss of function mutations in EPITHELIAL SODIUM CHANNELS subunits (autosomal dominant) or MINERALOCORTICOID RECEPTORS (autosomal recessive) cause the disorder. Different mutations in EPITHELIAL SODIUM CHANNELS subunits cause Liddle syndrome.
A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION.
Autosomal dominant syndrome of renal electrolyte transport dysfunctions. The clinical features include salt-sensitive hypertension, renal HYPERKALEMIA without sodium wasting, normal glomerular filtration rate and metabolic acidosis (hyperchloremic acidemia and HYPERCALCIURIA). Wnk1 and Wnk4 mutations are responsible for the disorder.
Synonyms: Type II Pseudohypoaldosteronisms, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Hyperpotassemia and Hypertension, Familial, Pseudohypoaldosteronisms, Familial Hypertensive Hyperkalemia, Gordon Hyperkalemia-Hypertension Syndrome, Type II, Pseudohypoaldosteronism, Pseudohypoaldosteronism Type I, Pseudohypoaldosteronism Type 2s, Pseudohypoaldosteronism Type IIs, Familial Hyperpotassemia and Hypertension, Syndrome, Gordon Hyperkalemia-Hypertension, Pseudohypoaldosteronism, Pseudohypoaldosteronism Type 1, Autosomal Recessive, Type IIs, Pseudohypoaldosteronism, Hypertensive Hyperkalemias, Familial, Type II Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Type Is, Pseudohypoaldosteronism, Hypertensive Hyperkalemia, Familial, Familial Hypertensive Hyperkalemias, Pseudohypoaldosteronism, Type I, Autosomal Recessive, Gordon Hyperkalemia Hypertension Syndrome, Pseudohypoaldosteronism Type Is, Pseudohypoaldosteronism Type 1, Autosomal Dominant, Pseudohypoaldosteronisms, Type I, Hyperkalemia, Familial Hypertensive, Pseudohypoaldosteronism, Type II, Type I Pseudohypoaldosteronism, Pseudohypoaldosteronism Type 1s, Pseudohypoaldosteronism Type II, Pseudohypoaldosteronisms, Type II, Type I, Pseudohypoaldosteronism, Pseudohypoaldosteronism Type 2, Pseudohypoaldosteronism Type 1, Hyperkalemia-Hypertension Syndrome, Gordon, Hyperkalemias, Familial Hypertensive, Type 1, Pseudohypoaldosteronism
Instance information
1991(1988); use RENAL TUBULAR TRANSPORT, INBORN ERRORS 1988-90 ,1991; see RENAL TUBULAR TRANSPORT, INBORN ERRORS 1988-90
D011546