What is the historical background of Fanconi syndrome?

Updated: Feb 09, 2018
  • Author: Sahar Fathallah-Shaykh, MD; Chief Editor: Craig B Langman, MD  more...
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The renal syndrome that is associated with the Swiss pediatrician Guido Fanconi was actually described in parts and under various names by several investigators who preceded him. The first investigator was Abderhalden; in 1903, he found cystine crystals in the liver and spleen of a 21-month-old infant and called the disease "a familial cystine diathesis." In 1924, Lignac described 3 such children who presented with severe rickets and growth retardation. In 1931, Fanconi described a child who had glucosuria and albuminuria in addition to rickets and dwarfism. Two years later, de Toni added hypophosphatemia to the clinical picture; soon after, Debre et al found large amounts of organic acids in the urine of an 11-year-old girl.

Fanconi's further contribution to the subject came in 1936, when he recognized the similarities between these cases, added 2 new patients to the list, named the disease nephrotic-glucosuric dwarfism with hypophosphatemic rickets, and suggested that the organic acids found in the urine may be amino acids. Fanconi's findings were confirmed in 1943 by McCune et al and in 1947 by Dent, who established that the organic acids originated in the kidneys.

During the years that followed, as the number of reported cases multiplied, the syndrome's association with various conditions characterized by injury of the proximal segment of the renal tubule became clear. Yet, the mechanism underlying these abnormalities remains a matter of debate.

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