Fanconi's Syndrome

* a disease of the proximal renal tubules of the kidney in which glucose, amino acids, uric acid, phosphate and bicarbonate are passed into the urine, instead of being reabsorbed.

* Fanconi syndrome affects the proximal tubule, which is the first part of the tubule to process fluid after it is filtered through the glomerulus. It may be inherited, or caused by drugs or heavy metals.

* 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.

a genetic disease with an incidence of 1 per 350,000 births, with a higher frequency in Ashkenaz Jews and Afrikaners in South Africa.

* FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of FA patients develop cancer,

* most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40.

* Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown.

* Common causes of Fanconi syndrome in children are genetic defects that affect the body's ability to break down certain compounds such as:

* Cystine (cystinosis)

* Fructose (fructose intolerance)

* Galactose (galactosemia)

* Glycogen (glycogen storage disease)

* a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern.

* a rare genetic disorder that causes an accumulation of the amino acidcystine within cells, forming crystals that can build up and damage the cells.

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