Familial hyperpotassemia and hypertension accompanied by normal plasma aldosterone levels: possible hereditary cell membrane defect.
Hypertension and hyperpotassemia that were accompanied by normal plasma aldosterone and low renin levels and were responsive to chlorothiazide administration were found in a 29-year-old patient and two decades later in his 21-year-old son. Their renal function is normal, including response to sodium sulfate, mannitol, and aldosterone infusions. Adrenal insufficiency was excluded. The renin-aldosterone system was proved intact by physiological and pharmacologic stress and angiotensin-II infusion. Also normal were values for blood counts, blood volumes, and erythrocyte and exchangeable body potassium. The postulation of a defective cell membrane impeding potassium influx is supported by the failure of glucose and insulin infusions to substantially reduce hyperpotassemia. In the context of a hereditary disorder (the pedigree, compatible with autosomal dominant inheritance, includes five affected in two generations), hypertension is a second phenotypic character of a single defective pleiotropic gene although its pathogenesis remains unclear.
D000328:Adult; D000450:Aldosterone / Q000097:blood*; D002462:Cell Membrane / Q000378:metabolism; D006801:Humans; D006947:Hyperkalemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006973:Hypertension / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D007328:Insulin; D007677:Kidney Function Tests; D008297:Male; D012083:Renin / Q000097:blood
D007328:Insulin; D000450:Aldosterone; D012083:Renin