View source for Fanconi syndrome

__NOTOC__
{{Infobox_Disease |
  Name           = {{PAGENAME}} |
  Image          = |
  Caption        = |
  DiseasesDB     = 11687 |
  ICD10          = {{ICD10|E|72|0|e|70}} |
  ICD9           = {{ICD9|270.0}} |
  ICDO           = |
  OMIM           = |
  MedlinePlus    = |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID         = D005198 |
}}

{{SI}}
{{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==
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), fructose intolerance, ingesting expired [[tetracyclines]], and as a side effect of [[tenofovir]].

==Diagnosis==
==Symptoms==
{{main|Renal tubular acidosis}}
Are the clinical features of proximal renal tubular acidosis:
* [[Polyuria]], [[polydipsia]] and [[dehydration]]
* [[Rickets]] (in children) and [[osteomalacia]] (in adults)
* [[Growth failure]]
* [[Acidosis]]
* [[Hypokalemia]]

And the other features of the generalised proximal tubular dysfunction of the Fanconi syndrome
* [[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==
{{Reflist|2}}

{{Metabolic pathology}}
{{Nephrology}}


[[Category:Organ disorders]]
[[Category:Kidney diseases]]

[[de:De Toni Fanconi Syndrom]]
[[pl:Zespół Fanconiego]]
[[Category:Inborn errors of metabolism]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}