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]] [[nl:Fanconi-syndroom]] [[pl:Zespół Fanconiego]] [[pt:Síndrome de Fanconi]]