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Information about Fanconi Syndrome


Classification & external resources
ICD-10E72.0
ICD-9270.0
DiseasesDB11687
eMedicineped/756 
MeSHD005198
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: And the other features of the generalised proximal tubular dysfunction of the Fanconi syndrome

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

External links

 •  • [ e]
Metabolic pathology (, )
Amino acidAromatic (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) - 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
CarbohydrateLactose 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 storageSphingolipidoses/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 lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu 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 pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
 •  • [ e]
Health science - Medicine - Urinary system - Pathology - Nephrology (, )
Diseases of the glomerulusGlomerulonephritis - Focal segmental glomerulosclerosis - Membranoproliferative glomerulonephritis - Membranous glomerulonephritis - Nephritic syndrome - Post-streptococcal glomerulonephritis - Nephrotic syndrome (Minimal change disease) - IgA nephropathy - Lupus nephritis - Diabetic nephropathy
Tubulointerstitial diseases of the kidneyInterstitial nephritis - Pyelonephritis - Hydronephrosis - Pyonephrosis - Balkan nephropathy - Reflux nephropathy
Renal failureAcute renal failure - Chronic renal failure
Diseases of the renal tubule and
other disorders of kidney and ureter		tubule (Fanconi syndrome - renal tubular acidosis - renal cell carcinoma - pseudohypoaldosteronism) - Renal osteodystrophy - Nephroptosis - Ureterocele
Other diseases and
disorders of urinary system		Cystitis (Interstitial cystitis, Trigonitis) - Neurogenic bladder - Vesicointestinal fistula - Urethritis - Urethral stricture - Urinary tract infection - Kidney stone
Tumours of the kidneyRenal cell carcinoma - Wilms' tumor (children)
See also conditions (, )
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

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eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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The kidneys are organs that filter wastes (such as urea) from the blood and excrete them, along with water, as urine. The medical field that studies the kidneys and diseases of the kidney is called nephrology[1].
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An electrolyte is a substance containing free ions that behaves as an electrically conductive medium. Because they generally consist of ions in solution, electrolytes are also known as ionic solutions, but molten electrolytes and solid electrolytes are also possible.
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macronutrients and those needed in relatively small quantities are called micronutrients.

See healthy diet for information on the role of nutrients in human nutrition.

Types of human nutrients

Macronutrients are defined in several different ways.
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Blood is a specialized biological fluid consisting of red blood cells (also called RBCs or erythrocytes), white blood cells (also called leukocytes) and platelets (also called thrombocytes) suspended in a complex fluid medium known as blood plasma.
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Glucose (Glc), a monosaccharide (or simple sugar), is an important carbohydrate in biology. The living cell uses it as a source of energy and metabolic intermediate.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Uric acid (or urate) is an organic compound of carbon, nitrogen, oxygen and hydrogen with the formula C5H4N4O3.

Metabolic processes

Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid.
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A phosphate, in inorganic chemistry, is a salt of phosphoric acid. In organic chemistry, a phosphate, or organophosphate, is an ester of phosphoric acid. Phosphates are important in biochemistry and biogeochemistry.
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bicarbonate (IUPAC-recommended nomenclature: hydrogencarbonate) is an intermediate form in the deprotonation of carbonic acid.

Chemical properties



The bicarbonate ion (hydrogen carbonate) is an anion with the empirical formula HCO3
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bicarbonate (IUPAC-recommended nomenclature: hydrogencarbonate) is an intermediate form in the deprotonation of carbonic acid.

Chemical properties



The bicarbonate ion (hydrogen carbonate) is an anion with the empirical formula HCO3
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MeSH D000141 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately the urine.
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Guido Fanconi (1 January1892 – 10 October 1979) was a Swiss pædiatrician. He was born in Poschiavo, Canton Grisons (Graubünden) in the Italian-speaking region of Switzerland. Fanconi is regarded as one of the founders of modern paediatrics.
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Motto
Unus pro omnibus, omnes pro uno (Latin) (traditional)[1]
"One for all, all for one"
Anthem
"Swiss Psalm"
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Pediatrics (also spelled paediatrics) is the branch of medicine that deals with the medical care of infants, children, and adolescents (from newborn to age 14-21, depending on the country).
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Fanconi Anemia
Classification & external resources

ICD-10 D 61.0
ICD-9 284.0

OMIM 227650
DiseasesDB 4745
MedlinePlus 000334
eMedicine ped/3022   Fanconi anemia
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MeSH D000141 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately the urine.
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Polyuria
Classifications and external resources

ICD-10 R 35.
ICD-9 788.42

Polyuria is the passage of a large volume of urine in a given period (>= 2.
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Polydipsia
Classifications and external resources

ICD-10 R 63.1
ICD-9 783.5

Polydipsia is a medical condition in which the patient ingests abnormally large amounts of fluids by mouth.
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Dehydration
Classification & external resources

ICD-10 E 86.
ICD-9 276.5

Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object.
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Rickets
Classification & external resources

A family with rickets. Paris, 1900.
ICD-10 E 55.
ICD-9 268

DiseasesDB 9351
MedlinePlus 000344
eMedicine ped/2014  

MeSH D012279 Rickets
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Osteomalacia
Classification & external resources

ICD-10 M 83.
ICD-9 268.2

DiseasesDB 9351

eMedicine ped/2014   radio/610
MeSH D010018 Osteomalacia is a softening of the bones, resulting from defective bone mineralization.
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Growth failure is a medical term for a pattern of a child's growth which is poorer than normal for age, sex, stage of maturation, and genetic height expectation. Growth failure usually has an abnormal cause or causes.
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MeSH D000138
For acidosis referring to acidity of the urine, see renal tubular acidosis.
Acidosis is an increased acidity (i.e. an increased hydrogen ion concentration). If not further qualified, it refers to acidity of the blood plasma.
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