PHILIP L. DERN, M.D.
In 1936 Fanconi described a syndrome including rickets, nephrosis, glycosuria and hypophosphatemia.1 His suspicion that the organic acids excreted in large amounts were amino acids was partially confirmed by McCune in 1943.2 The later history of the disease parallels the development of more exact means of determining amino acids. Dent found that patients with the Fanconi syndrome excreted many different amino acids in the urine, yet blood levels of amino acids were normal.3 He distinguished two general types of amino-aciduria: those associated with marked amino-acidemia, as in severe liver failure, and those in which blood levels were normal but a
DERN PL. AMINO-ACIDURIA WITH CYSTINOSIS: CASE REPORT WITH DETERMINATION OF URINARY AMINO ACIDS AND OCULAR CYSTINE1. Ann Intern Med. 1957;46:138–144. doi: 10.7326/0003-4819-46-1-138
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Published: Ann Intern Med. 1957;46(1):138-144.
Autoimmune Kidney Disease, Education and Training, Lupus Erythematosus, Nephrology, Rheumatology.
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