Fanconi syndrome Classification and external resources ICD-10 E72.0 ICD-9 270.0 DiseasesDB 11687 eMedicine ped/756 MeSH D005198
Falconi syndrome (also known as Fanconi's syndrome) is a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed. Fanconi syndrome affects the proximal tubule, which is the first part of the tubule to process fluid after it is filtered through the glomerulus. It may be inherited, or caused by drugs or heavy metals.
Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different complications. The loss of bicarbonate results in Type 2 or proximal renal tubular acidosis. The loss of phosphate results in the bone disease rickets (even with adequate vitamin D and calcium), because phosphate is necessary for bone development.
It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome; though, as in the case of Goodpasture's syndrome, it is customary to name a syndrome after the first person to note a constellation of symptoms as occurring together.
It should not be confused with Fanconi anemia, a separate disease.
The clinical features of proximal renal tubular acidosis are:
- Polyuria, polydipsia and dehydration
- Hypophosphatemic rickets (in children) and osteomalacia (in adults)
- Growth failure
Other features of the generalized proximal tubular dysfunction of the Fanconi syndrome are:
In contrast to Hartnup disease and related tubular conditions, Fanconi syndrome affects the transport of many different substances, and therefore is not considered to be a defect in a specific channel, but a more general defect in the function of the proximal tubules.
There are different diseases underlying Fanconi syndrome. They can be inherited, congenital or acquired.
Cystinosis is the most common cause of Fanconi syndrome in children.
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, and fructose intolerance.
It is possible to acquire this disease later in life.
Causes include ingesting expired tetracyclines, and as a side effect of tenofovir in cases of preexisting renal impairment. In the HIV population, Fanconi syndrome can develop secondary to use of an antiretroviral regimen containing tenofovir and didanosine. Lead poisoning also leads to Fanconi syndrome.
Monoclonal gammopathy of undetermined significance can also cause the condition.
Multiple myeloma is also a known cause.
Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).
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- ^ Fanconi Syndrome at Merck Manual Home Health Handbook
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- ^ Vilasi A, Cutillas PR, Maher AD et al. (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–F467. doi:10.1152/ajprenal.00095.2007. PMID 17494094. http://ajprenal.physiology.org/cgi/pmidlookup?view=long&pmid=17494094.
- ^ Viread Label Information, U.S. Food and Drug Administration (FDA)), 2008-04-11
- ^ Tenofovir (Viread) Associated with Mild Kidney Function Impairment, but not Clinically Relevant Renal Disease, hivandhepatitis.com, 2008-10-14
- ^ Irizarry-Alvarado JM, Dwyer JP, Brumble LM, et al. Proximal tubular dysfunction associated with tenofovir and didanosine causing Fanconi syndrome and diabetes insipidus: a report of 3 cases. AIDS Reader. 2009;19:114-121.
- ^ Barbier O, Jacquillet G, Tauc M, Cougnon M, Poujeol P (2005). "Effect of heavy metals on, and handling by, the kidney". Nephron Physiol 99 (4): p105–p110. doi:10.1159/000083981. PMID 15722646. http://content.karger.com/produktedb/produkte.asp?typ=pdf&file=NEP2005099004105.
- ^ Hashimoto T, Arakawa K, Ohta Y et al. (2007). "Acquired fanconi syndrome with osteomalacia secondary to monoclonal gammopathy of undetermined significance" (– Scholar search). Intern. Med. 46 (5): 241–245. doi:10.2169/internalmedicine.46.1882. PMID 17329920. http://joi.jlc.jst.go.jp/JST.JSTAGE/internalmedicine/46.1882?from=PubMed. [dead link]
Inborn error of amino acid metabolism (E70–E72, 270) K→acetyl-CoALysine/straight chainHypertryptophanemia GG→pyruvate→citrateG→glutamate→
IE of RTT
Other Urinary system · Pathology · Urologic disease / Uropathy (N00–N39, 580–599) AbdominalGlomerulopathy/
nephroticBy conditionType III RPG/Pauci-immuneTubulopathy/
tubulitisRTA (RTA 2) · Fanconi syndromeAny/allAny/allGeneral syndromesOtherUreter
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Fanconi syndrome — Fan·co·ni syndrome nē also Fanconi s syndrome n a disorder of reabsorption in the proximal convoluted tubules of the kidney characterized esp. by the presence of glucose, amino acids, and phosphates in the urine * * * a disorder of the proximal… … Medical dictionary
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