Fanconi syndrome

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Fanconi syndrome Classification and external resources
ICD-10	E72.0
ICD-9	270.0
DiseasesDB	11687
eMedicine	ped/756
MeSH	D005198

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Fanconi syndrome (also known as Fanconi's syndrome) is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, 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.

Clinical features

Main article: 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

Causes

There are different diseases underlying Fanconi syndrome. They can be 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.

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 Basenjis

External links

• Basenji Club Fanconi syndrome page

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia

v • d • e Urinary system · Pathology · Urologic disease / Uropathy (N00-N39, 580-599)
Abdominal	Nephropathy/ (nephritis+ nephrosis) Glomerulopathy/ glomerulitis/ (glomerulonephritis+ glomerulonephrosis) By appearance Non-proliferative .0 Minimal change · .1 Focal segmental · .2 Membranous Proliferative .3 Mesangial proliferative · .4 Endocapillary proliferative .5/.6 Membranoproliferative/mesangiocapillary · .7 Rapidly progressive/crescentic By syndrome Nephritic syndrome · Nephrotic syndrome By condition IgA/Berger's · Diabetic · Post-streptococcal · Lupus · Amyloidosis Tubulopathy/ tubulitis Proximal RTA (RTA 2) Thick ascending Bartter syndrome Distal convoluted Gitelman syndrome Collecting duct Liddle's syndrome · RTA (RTA 1) · Nephrogenic diabetes insipidus Renal papilla Renal papillary necrosis Major calyx/pelvis Hydronephrosis · Pyonephrosis · Reflux nephropathy Any/all Acute tubular necrosis Interstitium Interstitial nephritis (Pyelonephritis, Danubian endemic familial nephropathy) Any/all General syndromes Renal failure (Acute renal failure, Chronic renal failure) Vascular Renal artery stenosis · Hypertensive nephropathy · Renovascular hypertension Other Analgesic nephropathy · Renal osteodystrophy · Nephroptosis · Abderhalden-Kaufmann-Lignac syndrome Ureter Ureteritis · Ureterocele · Megaureter
Pelvic	Bladder Cystitis (Interstitial cystitis, Trigonitis) · Neurogenic bladder · Vesicointestinal fistula · Vesicoureteral reflux Urethra Urethritis (Non-gonococcal urethritis) · Urethral syndrome · Urethral stricture
Any/all	Obstructive uropathy · Urinary tract infection · Retroperitoneal fibrosis · Urolithiasis (Kidney stone, Renal colic)
See also congenital, neoplasia, symptoms/signs

v • d • e WikiDoc Research Resources for Fanconi syndrome
Articles on Fanconi syndrome	Most recent articles on Fanconi syndrome • Most cited articles on Fanconi syndrome • Review articles on Fanconi syndrome • Articles on Fanconi syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Fanconi syndrome	Powerpoint slides on Fanconi syndrome • Images of Fanconi syndrome • Photos of Fanconi syndrome • Podcasts & MP3s on Fanconi syndrome • Videos on Fanconi syndrome
Evidence Based Medicine Regarding Fanconi syndrome	Cochrane Collaboration on Fanconi syndrome • Bandolier on Fanconi syndrome • TRIP on Fanconi syndrome
Cost Effectiveness of Fanconi syndrome	Cost Effectiveness of Fanconi syndrome
Clinical Trials Involving Fanconi syndrome	Ongoing Trials on Fanconi syndrome at Clinical Trials.gov • Trial results on Fanconi syndrome • Clinical Trials on Fanconi syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Fanconi syndrome	US National Guidelines Clearinghouse on Fanconi syndrome • NICE Guidance on Fanconi syndrome • NHS PRODIGY Guidance • FDA on Fanconi syndrome • CDC on Fanconi syndrome
Textbook Information on Fanconi syndrome	Books and Textbook Information on Fanconi syndrome
Pharmacology Resources on Fanconi syndrome	Dosing of Fanconi syndrome • Drug interactions with Fanconi syndrome • Side effects of Fanconi syndrome • Allergic reactions to Fanconi syndrome • Overdose information on Fanconi syndrome • Carcinogenicity information on Fanconi syndrome • Fanconi syndrome in pregnancy • Pharmacokinetics of Fanconi syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Fanconi syndrome	Genetics of Fanconi syndrome • Pharmacogenomics of Fanconi syndrome • Proteomics of Fanconi syndrome
Newstories on Fanconi syndrome	Fanconi syndrome in the news • Be alerted to news on Fanconi syndrome • News trends on Fanconi syndrome
Commentary on Fanconi syndrome	Blogs on Fanconi syndrome
Patient Resources on Fanconi syndrome	Patient resources on Fanconi syndrome • Discussion groups on Fanconi syndrome • Patient Handouts on Fanconi syndrome • Directions to Hospitals Treating Fanconi syndrome • Risk calculators and risk factors for Fanconi syndrome
Healthcare Provider Resources on Fanconi syndrome	Symptoms of Fanconi syndrome • Causes & Risk Factors for Fanconi syndrome • Diagnostic studies for Fanconi syndrome • Treatment of Fanconi syndrome
Continuing Medical Education (CME) Programs on Fanconi syndrome	CME Programs on Fanconi syndrome
International Resources on Fanconi syndrome	Fanconi syndrome en Espanol • Fanconi syndrome en Francais
Business Resources on Fanconi syndrome	Fanconi syndrome in the Marketplace • Patents on Fanconi syndrome
Informatics Resources on Fanconi syndrome	List of terms related to Fanconi syndrome

de:De Toni Fanconi Syndrom