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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.
Entry Term(s)
Familial Hyperpotassemia and Hypertension
Familial Hypertensive Hyperkalemia
Gordon Hyperkalemia-Hypertension Syndrome
Hyperpotassemia and Hypertension, Familial
Hypertensive Hyperkalemia, Familial
Pseudohypoaldosteronism Type 1
Pseudohypoaldosteronism Type 1, Autosomal Dominant
Pseudohypoaldosteronism Type 1, Autosomal Recessive
Pseudohypoaldosteronism Type 2
Pseudohypoaldosteronism Type I
Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism, Type I
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Type I, Autosomal Recessive
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.
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.