Fanconi syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview[1]
Fanconi syndrome is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate.
The reduced reabsorption of bicarbonate results in type 2 or proximal renal tubular acidosis, which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome.
It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome.
It should not be confused with Fanconi anemia, a separate disease.
References
- ↑ Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN (2011). "Cystinosis: practical tools for diagnosis and treatment". Pediatr Nephrol. 26 (2): 205–15. doi:10.1007/s00467-010-1627-6. PMC 3016220. PMID 20734088.