O. SPERLING, PH.D.; A. WEINBERGER, M.D.; I. OLIVER, M.D.; U. A. LIBERMAN, M.D.; A. DE VRIES, M.D.
A 53-year-old man had hypouricemia (serum uric acid, 0.6 to 1.1 mg/100 ml), with an increased renal uric acid clearance (55 ml/min), idiopathic hypercalciuria (up to 460 mg/24 hr), and markedly decreased bone density. Uric acid clearance was suppressed by pyrazinamide to 40.4 ml/min and increased by probenecid to 75 ml/min. No other metabolic abnormalities were detected. A survey of the available members of the patient's family (23 in 3 generations) showed 4 additional similarly affected persons—a brother and a sister of the propositus and two of their grandchildren from a consanguineous marriage. The syndrome is transmitted as an autosomal recessive trait. None of these abnormalities could be detected in the obligate heterozygotes.
SPERLING O, WEINBERGER A, OLIVER I, LIBERMAN UA, DE VRIES A. Hypouricemia, Hypercalciuria, and Decreased Bone Density: A Hereditary Syndrome. Ann Intern Med. 1974;80:482–487. doi: 10.7326/0003-4819-80-4-482
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Published: Ann Intern Med. 1974;80(4):482-487.
Endocrine and Metabolism, Metabolic Bone Disorders.
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