The Fanconi Syndrome



This disorder represents a generalized failure of specialized proximal tubular reabsorption. The Fanconi syndrome is identified by a broad range of aminoaciduria, glycosuria, phosphaturia, uri-cosuria, and bicarbonaturia. The tubulopathy it­self does not lead to renal failure, but the con­dition in which Fanconi’s syndrome occurs may cause renal insufficiency.

The Fanconi syndrome is commonly seen as a part of some hereditary disorders, is rarely seen as a single hereditary defect, and may occur as an acquired defect in association with an underlying disease or drug. The most common cause of the syndrome in children is the hereditary disease cystinosis, a disorder characterized by the cellular accumulation of cystine in various organs, in­cluding the kidney. Proximal tubular cystine ac­cumulation may play a role in the tubulopathy but is certainly the cause of eventual renal failure. Wilson’s disease, characterized by excess body copper accumulation, is also a cause of hereditary Fanconi syndrome. The tubulopathy may be ac­quired as a feature of such diseases as multiple myeloma, amyloidosis, and Sjogren’s syndrome.