Fanconi syndrome
3661744
218033219
2008-06-08T21:21:38Z
139.127.114.45
{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = |
Caption = |
DiseasesDB = 11687 |
ICD10 = {{ICD10|E|72|0|e|70}} |
ICD9 = {{ICD9|270.0}} |
ICDO = |
OMIM = |
MedlinePlus = |
eMedicineSubj = ped |
eMedicineTopic = 756 |
MeshID = D005198 |
}}
'''Fanconi Syndrome''' (also known as ''Fanconi's 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.
==Eponym==
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.
==Clinical features==
{{main|renal tubular acidosis}}
Are the clinical features of proximal renal tubular acidosis:
* [[Polyuria]], [[polydipsia]] and [[dehydration]]
* Hypophosphatemic [[Rickets]] (in children) and [[osteomalacia]] (in adults)
* [[Growth failure]]
* [[Acidosis]]
* [[Hypokalemia]]
And the other features of the generalized proximal tubular dysfunction of the Fanconi syndrome
* [[Hypophosphatemia]]/Phosphaturia
* [[Glycosuria]]
* [[Proteinuria]]/Aminoaciduria
* [[Uricosuria]]
==Causes==
There are different diseases underlying Fanconi syndrome. They can be [[inheritance|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), [[Lowe Syndrome]], [[Tyrosinemia]](Type I), [[galactosemia]], [[glycogen storage diseases]], fructose intolerance, ingesting expired [[tetracyclines]], and as a side effect of [[tenofovir]].
==Treatment==
Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the [[urine]] (mainly fluid and bicarbonate).
==See also==
*[[Familial renal disease in animals]] for Fanconi syndrome in [[Basenji]]s
==External links==
*[http://www.basenjiclub.com/?q=node/36 Basenji Club Fanconi syndrome page]
{{Amino acid metabolic pathology}}
{{Nephrology}}
[[Category:Organ disorders]]
[[Category:Kidney diseases]]
[[de:De-Toni-Fanconi-Syndrom]]
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[[pl:Zespół Fanconiego]]
[[pt:Síndrome de Fanconi]]