Citizendia
Your Ad Here

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. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings E00-E35 - Endocrine diseases (E00-E07 Thyroid gland / Thyroid hormone ( Congenital iodine-deficiency syndrome ( The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely two medical doctors Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books A nephron (from Greek νεφρός (nephros meaning "kidney" is the basic structural and functional unit of the Kidney. The kidneys are complicated organs that have numerous biological roles An electrolyte is any substance containing free Ions that behaves as an electrically conductive medium A nutrient is food or chemicals that an organism needs to live and grow or a substance used in an organism's metabolism which must be taken in from its environment This is an article about the rock music band "Circulatory System" Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate. Glucose (Glc a Monosaccharide (or simple Sugar) also known as grape sugar, is an important Carbohydrate in Biology. In Chemistry, an amino acid is a Molecule containing both Amine and Carboxyl Functional groups In Biochemistry, this Uric acid (or urate) is an Organic compound of Carbon, Nitrogen, Oxygen and Hydrogen with the formula C5H4N4O3 A phosphate, an Inorganic chemical, is a salt of Phosphoric acid. In Inorganic chemistry, bicarbonate ( IUPAC -recommended nomenclature hydrogencarbonate) is an intermediate form in the Deprotonation

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. In Inorganic chemistry, bicarbonate ( IUPAC -recommended nomenclature hydrogencarbonate) is an intermediate form in the Deprotonation 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 acidify

Contents

Eponym

It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome. Guido Fanconi ( 1 January[[ 892]] &ndash 10 October 1979) was a Swiss Pediatrician. Switzerland (English pronunciation; Schweiz Swiss German: Schwyz or Schwiiz Suisse Svizzera Svizra officially the Swiss Confederation Pediatrics (also spelled paediatrics) is the branch of Medicine that deals with the medical care of Infants Children and Adolescents

It should not be confused with Fanconi anemia, a separate disease. Fanconi anemia (FA is a genetic disease that affects children and adults from all ethnic backgrounds

Clinical features

Main article: renal tubular acidosis

Are the clinical features of proximal renal tubular acidosis:

And the other features of the generalized proximal tubular dysfunction of the Fanconi syndrome

Causes

There are different diseases underlying Fanconi syndrome. 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 acidify In Medicine, polyuria is a condition characterized by the passage of large volumes of urine (at least 2 Polydipsia is a medical symptom in which the patient drinks abnormally large amounts of Fluids The word derives from the Greek πολυδιψία, the Dehydration ( hypohydration) is the removal of Water ( hydro in ancient Greek) from an object Rickets is a softening of the bones in children potentially leading to fractures and deformity Osteomalacia is the general term for the softening of the bones due to defective Bone mineralization. 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 Acidosis is an increased Acidity (ie an increased Hydrogen ion Concentration) Hypokalemia refers to the condition in which the concentration of Potassium in the blood is low Hypophosphatemia is an Electrolyte disturbance in which there is an abnormally low level of Phosphate in the Blood. Glycosuria or glucosuria is an abnormal condition of Osmotic Diuresis due to excretion of Glucose by the kidneys Proteinuria (from protein and urine) means the presence of anexcess of serum Proteins in the Urine. Uricosuria is the presence of excessive amounts of uric acid in the urine They can be inherited/congenital as well as acquired. "Heir" and "Heiress" redirect here For the men and women fragrances endorsed by Paris Hilton see Heiress (fragrance. A congenital disorder is a disease or disorder that is present at birth Cystinosis is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. Cystinosis is an autosomal recessive Genetic disorder of the Renal tubules characterized by the presence of Carbohydrates and Amino 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. Wilson's disease or hepatolenticular degeneration is an Autosomal recessive Genetic disorder in which Copper accumulates in tissues Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by Hydrophthalmia, Cataracts Intellectual Tyrosinemia (or "Tyrosinaemia" is an error of Metabolism, usually inborn in which the body cannot effectively break down the Amino acid Tyrosine Galactosemia is a rare genetic metabolic disorder which affects an individual's ability to properly metabolize the sugar Galactose. Glycogen storage disease (synonyms glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from Enzyme defects Tetracyclines are a group of Broad-spectrum antibiotics whose general usefulness has been reduced with the onset of bacterial resistance Tenofovir disoproxil fumarate ( TDF or PMPA) marketed by Gilead Sciences under the trade name Viread, belongs to a class of Antiretroviral

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate). Urine is a liquid waste product of the body secreted by the Kidneys by a process of filtration from Blood and Excreted through the Urethra.

See also

External links

Familial renal disease in animals is an uncommon cause of Renal failure (kidney failure in young Dogs and Cats Most causes are breed-related (familial The Basenji is a breed of hunting Dog that originated in central Africa.
© 2009 citizendia.org; parts available under the terms of GNU Free Documentation License, from http://en.wikipedia.org
 Dapyx Software network: MP3 Explorer | Ebook Manager | Zenithic