Hyperkalemia, hypertension and systemic acidosis without renal failure associated with a tubular defect in potassium excretion

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A twenty-one year old man is described who has what appears to be a unique renal tubular defect in potassium excretion, associated with persistent hyperkalemia (up to 8.2 mEq. per L.), hypertension, systemic acidosis and slightly impaired renal excretion of acid. Renal failure was absent; glomerular filtration rate, maximal tubular secretion of p-aminohippurate, maximal urinary concentrating ability and urinary amino acid excretion pattern were all normal, as was the appearance of renal tissue at biopsy. Clearance of p-aminohippurate and phenolsulfonphthalein excretion were somewhat reduced. A balance study showed a positive potassium balance of 142 mEq. in four days, associated with low urinary potassium excretion and rising serum potassium levels; sodium balance was normal. Red cell electrolyte content was normal, as were salivary and sweat potassium concentrations. Sodium sulfate infusion combined with a carbonic anhydrase inhibitor, which markedly increased potassium excretion in control subjects, had little effect on the patient's potassium excretion, except when accentuated by prior salt depletion and 9α-fluorohydrocortisone administration. Adrenal insufficiency was excluded as a cause for hyperkalemia and there was no evidence of impaired tubular response to mineralocorticoids, since sodium metabolism was normal. The hypertension, associated with blood pressures up to 140 mm. Hg diastolic, responded well to treatment with sodium polystyrene sulfonate (Resonium ® A) and chlorothiazide, which also controlled the hyperkalemia. Diastolic blood pressures correlated significantly with serum potassium levels. Endocrine causes for hypertension were excluded. Presser responses to cold, smoking, norepinephrine and angiotensin were in the range reported in patients with hypertension of other causes. Chromosome studies were normal, but absent incisor teeth in the patient and in his brother, and a family history of mental illness raised the possibility of a genetic basis for his metabolic disorder.