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Familial Hyperpotassemia and Hypertension Accompanied by Normal Plasma Aldosterone Levels Possible Hereditary Cell Membrane Defect

Zvi Farfel, MD; Adrian Iaina, MD; Talma Rosenthal, MD; Uzi Waks, MD; Shlomo Shibolet, MD; Joseph Gafni, MD
Arch Intern Med. 1978;138(12):1828-1832. doi:10.1001/archinte.1978.03630370042020.
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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)


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