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.
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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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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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