Fanconi syndrome

From Wikipedia, the free encyclopedia

Fanconi syndrome Classification and external resources
ICD-10	E72.0
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.

Contents 1 Eponym 2 Clinical features 3 Causes 4 Treatment 5 See also 6 External links

[edit] 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.

[edit] Clinical features

Main article: 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

[edit] 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.

[edit] Treatment

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

[edit] See also

• Familial renal disease in animals for Fanconi syndrome in Basenjis

[edit] External links

• Basenji Club Fanconi syndrome page

v • d • e Inborn errors of amino acid metabolism (E70-72, 270) K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia (Hawkinsinuria) Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency G→oxaloacetate Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome) Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates

v • d • e Urinary system - Pathology - Nephrology, including nephritis and nephropathy (N00-N39, 580-599) Diseases of the glomerulus Glomerulonephritis - Focal segmental glomerulosclerosis - Membranoproliferative glomerulonephritis - Membranous glomerulonephritis - Nephritic syndrome - Post-streptococcal glomerulonephritis - Nephrotic syndrome (Minimal change disease) - IgA nephropathy - Lupus nephritis - Diabetic nephropathy - Rapidly progressive glomerulonephritis Tubulointerstitial diseases of the kidney Interstitial nephritis - Pyelonephritis - Hydronephrosis - Pyonephrosis - Balkan nephropathy - Reflux nephropathy Renal failure Acute renal failure (Acute tubular necrosis) - Chronic renal failure Urolithiasis Kidney stone - Renal colic Diseases of the renal tubule and other disorders of kidney and ureter Renal osteodystrophy - Nephrogenic diabetes insipidus - Nephroptosis - Ureterocele - Abderhalden-Kaufmann-Lignac syndrome - Inborn errors of renal tubular transport (Renal tubular acidosis, Gitelman syndrome) Other diseases and disorders of urinary system urinary bladder: Cystitis (Interstitial cystitis, Trigonitis) - Neurogenic bladder - Vesicointestinal fistula urethra: Urethritis (Non-gonococcal urethritis) - Urethral syndrome - Urethral stricture Urinary tract infection Tumors of the kidney Renal cell carcinoma - Wilms' tumor (children) See also congenital conditions (Q60-Q64, 753)