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.
(Arch Intern Med 138:1828-1832, 1978)
Farfel Z, Iaina A, Rosenthal T, Waks U, Shibolet S, Gafni J. Familial Hyperpotassemia and Hypertension Accompanied by Normal Plasma Aldosterone LevelsPossible Hereditary Cell Membrane Defect. Arch Intern Med. 1978;138(12):1828–1832. doi:10.1001/archinte.1978.03630370042020