Case report
Fanconi syndrome with hypouricemia in an adult: Family study

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Abstract

A case of familial Fanconi syndrome in a twenty-eight year old woman is described. The patient had osteomalacia, aminoaciduria, glycosuria, phosphaturia, albuminuria, hypouricemia and mild polyuria.

Nine relatives were affected in various degrees. Abnormal aminoaciduria was found in every instance. The triad of aminoaciduria, glycosuria and albuminuria was present in two of the patient's brothers and in her sister. Low serum uric acid levels and elevated uric acid clearance values were found in the patient and in four members of her family.

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    This study was supported by a grant from the Teva Middle East Pharmaceutical and Chemical Works, Ltd., Jerusalem, Israel.

    1

    From the Department of Medicine A, Rothschild Hadassah University Hospital, and the Laboratory of Clinical Research, Hebrew University—Hadassah Medical School, Jerusalem, Israel.

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