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,^[1] 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 3.1 Inherited 3.2 Acquired 4 Treatment 5 See also 6 References 7 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; 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.

[edit] Clinical features

The clinical features of proximal renal tubular acidosis are:

• Polyuria, polydipsia and dehydration
• Hypophosphatemic Rickets (in children) and osteomalacia (in adults)
• Growth failure
• Acidosis
• Hypokalemia
• Hyperchloremia

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

• Hypophosphatemia/Phosphaturia
• Glycosuria
• Proteinuria/Aminoaciduria
• Hyperuricosuria

[edit] Causes

There are different diseases underlying Fanconi syndrome. They can be inherited/congenital as well as acquired.

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

Two forms, Dent's disease and Lowe syndrome, are X linked.^[2]

[edit] Acquired

It is possible to acquire this disease later on in life.

Causes include ingesting expired tetracyclines, and as a side effect of tenofovir. Lead poisoning also leads to Fanconi Syndrome.

Monoclonal gammopathy of undetermined significance can also cause the condition.^[3]

[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] References

[edit] External links

• Basenji Club Fanconi syndrome page

v • d • e Inborn error of amino acid metabolism (E70-72, 270) K→acetyl-CoA 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 Tryptophan Hypertryptophanemia G G→pyruvate→citrate Glycine Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency Glycine→Creatine: GAMT deficiency G→glutamate→ α-ketoglutarate Histidine Carnosinemia · Histidinemia · Urocanic aciduria Proline Hyperprolinemia · Prolidase deficiency Glutamate/glutamine SSADHD G→propionyl-CoA→ succinyl-CoA Valine Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency Methionine Hypermethioninemia · Homocystinuria · Cystathioninuria General BC/OA Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency G→fumarate Phenylalanine/tyrosine Phenylketonuria Tetrahydrobiopterin deficiency · 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia Type II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I tyrosinemia Tyrosine→Melanin Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak syndrome) · Waardenburg syndrome 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/ IE of RTT Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria other/general/unknown: Oculocerebrorenal syndrome · Fanconi syndrome · Cystinosis Other Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency see also Amino acid metabolism enzymes, intermediates see also Urea cycle enzymes, intermediates

v • d • e Urinary system · Pathology · Urologic disease / Uropathy (N00-N39, 580-599) Abdominal Nephropathy/ (nephritis+ nephrosis) Glomerulopathy/ glomerulitis/ (glomerulonephritis+ glomerulonephrosis) Primarily nephrotic Non-proliferative .0 Minimal change · .1 Focal segmental · .2 Membranous Proliferative .3 Mesangial proliferative · .4 Endocapillary proliferative .5/.6 Membranoproliferative/mesangiocapillary By condition Diabetic · Amyloidosis Primarily nephritic, .7 RPG Type I RPG/Type II hypersensitivity Goodpasture's syndrome Type II RPG/Type III hypersensitivity Post-streptococcal · Lupus (DPN) · IgA/Berger's Type III RPG/Pauci-immune Wegener's granulomatosis · Microscopic polyangiitis Tubulopathy/ tubulitis Proximal RTA (RTA 2) Thick ascending Bartter syndrome Distal convoluted Gitelman syndrome Collecting duct Liddle's syndrome · RTA (RTA 1) · Diabetes insipidus (Nephrogenic) 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) · Uremic pericarditis · Uremia 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/painful bladder syndrome, Hunner's ulcer, Trigonitis, Hemorrhagic cystitis) · 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) · Malacoplakia See also congenital, neoplasia, symptoms/signs