Fanconi syndrome Classification & external resources
ICD -10
E 72.0
ICD -9
270.0
DiseasesDB
11687
eMedicine
ped/756
MeSH D005198
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.
Additional recommended knowledge
Clinical features
Are the clinical features of proximal renal tubular acidosis:
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), 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
Metabolic pathology / Inborn error of metabolism (E70-90 , 270-279 )Amino acid Aromatic (Phenylketonuria , Alkaptonuria , Ochronosis , Tyrosinemia , Albinism, Histidinemia ) - Organic acidemias 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 - Hyperprolinemia - 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 )Fatty acid metabolism Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain , Long-chain 3-hydroxy , Very long-chain ) - Carnitine Primary , I , II )Mineral Cu Wilson's disease /Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO4 3− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia /Hypomagnesemia - Ca2+ Hypercalcaemia /Hypocalcaemia /Disorders of calcium metabolism Fluid, electrolyte Electrolyte disturbance - Na+ Hypernatremia /Hyponatremia - Acidosis (Metabolic , Respiratory , Lactic) - Alkalosis (Metabolic , Respiratory ) - Mixed disorder of acid-base balance - H2 O Dehydration /Hypervolemia - K+ Hypokalemia /Hyperkalemia - Cl− Hyperchloremia/HypochloremiaPurine and pyrimidine Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria Porphyrin Acute intermittent , Gunther's , Cutanea tarda , Erythropoietic, Hepatoerythropoietic , Hereditary copro- , Variegate Bilirubin Unconjugated (Lucey-Driscoll syndrome , 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
