Fanconi syndrome


Fanconi syndrome
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[1] 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.[2]

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.[citation needed] The loss of phosphate results in the bone disease rickets (even with adequate vitamin D and calcium), because phosphate is necessary for bone development.[3]

Contents

Eponym

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.

Clinical features

The clinical features of proximal renal tubular acidosis are:

Other features of the generalized proximal tubular dysfunction of the Fanconi syndrome are:

Causes

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.[4]

There are different diseases underlying Fanconi syndrome. They can be inherited, congenital or acquired.

Inherited

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),[5] galactosemia, glycogen storage diseases, and fructose intolerance.

Two forms, Dent's disease and Lowe syndrome, are X linked.[6]

Acquired

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.[7][8] In the HIV population, Fanconi syndrome can develop secondary to use of an antiretroviral regimen containing tenofovir and didanosine.[9] Lead poisoning also leads to Fanconi syndrome.[10]

Monoclonal gammopathy of undetermined significance can also cause the condition.[11]

Multiple myeloma is also a known cause.

Treatment

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

See also

References

  1. ^ "Fanconi syndrome" at Dorland's Medical Dictionary
  2. ^ Fanconi Syndrome at Merck Manual Home Health Handbook
  3. ^ A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome, N Engl J Med 362:1102
  4. ^ "Fanconi Syndrome: eMedicine Pediatrics: General Medicine". http://emedicine.medscape.com/article/981774-overview. 
  5. ^ Cochat P, Pichault V, Bacchetta J et al. (March 2010). "Nephrolithiasis related to inborn metabolic diseases". Pediatr. Nephrol. 25 (3): 415–424. doi:10.1007/s00467-008-1085-6. ISBN 0046700810856. PMC 2810370. PMID 19156444. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2810370. 
  6. ^ 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. 
  7. ^ Viread Label Information, U.S. Food and Drug Administration (FDA)), 2008-04-11
  8. ^ Tenofovir (Viread) Associated with Mild Kidney Function Impairment, but not Clinically Relevant Renal Disease, hivandhepatitis.com, 2008-10-14
  9. ^ 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.
  10. ^ 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. 
  11. ^ 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]

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Look at other dictionaries:

  • 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

  • Fanconi syndrome — A group of kidney disorders that cause protein, sugar, minerals, and other nutrients to be lost in the urine. Symptoms include weakness, bone pain, and passing a greater than normal amount of urine. One form of Fanconi syndrome is inherited and… …   English dictionary of cancer terms

  • fanconi syndrome — noun also fanconi s syndrome Usage: usually capitalized F Etymology: after Guido Fanconi : a disorder of reabsorption in the proximal convoluted tubules of the kidney that is characterized especially by the presence of glucose, amino acids, and… …   Useful english dictionary

  • Fanconi syndrome — a disorder of the proximal kidney tubules, which may be inherited or acquired and is most common in children. It is characterized by the urinary excretion of large amounts of amino acids, glucose, and phosphates (though blood levels of these… …   The new mediacal dictionary

  • Fanconi syndrome — Transport disease (recessive defect) in which the renal reabsorption of several substances (phosphate, glucose, amino acids) is impaired …   Dictionary of molecular biology

  • Fanconi syndrome (anemia pancytopenia panmyelopathy) — Fan·co·ni syndrome (anemia, pancytopenia, panmyelopathy) (fahn koґne) [Guido Fanconi, Swiss pediatrician, 1892–1979] see under syndrome …   Medical dictionary

  • de Toni-Fanconi syndrome — de To·ni Fan·co·ni syndrome (da toґne fahn koґne) [Giovanni de Toni, Italian pediatrician, 1896–1973; Guido Fanconi, Swiss physician, 1892–1979] Fanconi syndrome (def. 2), see under syndrome …   Medical dictionary

  • Lignac-Fanconi syndrome — Lig·nac Fan·co·ni syndrome (le nyahkґ fahn koґne) [G.O.E. Lignac; Guido Fanconi, Swiss pediatrician, 1892–1979] 1. Fanconi syndrome (def. 2), see under syndrome. 2. cystinosis …   Medical dictionary

  • de Toni–Fanconi syndrome — ▪ pathology       a metabolic disorder affecting kidney transport, characterized by the failure of the kidney tubules to reabsorb water, phosphate, potassium, glucose, amino acids, and other substances. When the disorder is accompanied by… …   Universalium

  • de Toni-Fanconi syndrome — see Fanconi s. (def. 2) …   Medical dictionary


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