Fanconi syndrome: Difference between revisions

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	Fanconi syndrome;
ICD-10	E72.0
ICD-9	270.0
DiseasesDB	11687
MeSH	D005198

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Revision as of 20:30, 30 September 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired. Cystinosis is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), fructose intolerance, ingesting expired tetracyclines, and as a side effect of tenofovir.

Diagnosis

Symptoms

Are the clinical features of proximal renal tubular acidosis:

Polyuria, polydipsia and dehydration
Rickets (in children) and osteomalacia (in adults)
Growth failure
Acidosis
Hypokalemia

Laboratory Findings

Hypophosphatemia/Phosphaturia
Glycosuria
Proteinuria/Aminoaciduria
Uricosuria

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).

References

Template:Metabolic pathology Template:Nephrology

de:De Toni Fanconi Syndrom

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 {{CMG}}
-==Overview==
-Fanconi syndrome is a disorder in which the [[Nephron#Proximal_tubule| proximal tubular]] function of the [[kidney]] is impaired, resulting in decreased reabsorption of [[electrolyte]]s and [[nutrient]]s back into the [[bloodstream]]. Compounds involved include [[glucose]], [[amino acid]]s, [[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.
 ==Causes==

Fanconi syndrome
ICD-10	E72.0
ICD-9	270.0
DiseasesDB	11687
MeSH	D005198