 | | | | Medical Health Encyclopedia | |
Fanconi’s syndrome
Definition:
Fanconi's syndrome is an impairment in the proximal tubular function of the kidney. This damage causes certain compounds -- which should be absorbed into the bloodstream by the kidneys -- to be excreted in the urine instead. Compounds that may be lost in the urine include glucose, amino acids, uric acid, and phosphate. Loss of these compounds can cause problems, such as growth failure, decreased bone mineralization (rickets), and abnormal bone mineralization (osteomalacia). Text Continues Below
Type 2 renal tubular acidosis (RTA) may occur when too much bicarbonate is excreted in the urine, causing excess acid in the blood (acidosis). Another problem that may result is dehydration caused by excess urination. Alternative Names:
De Toni-Fanconi syndrome Causes, incidence, and risk factors:
Fanconi's syndrome can be genetic or acquired later in life. Common causes of Fanconi's syndrome in children are genetic defects impairing the body's ability to break down certain compounds, such as the amino acid cystine (cystinosis), fructose (fructose intolerance), galactose (galactosemia), and glycogen (glycogen storage diseases). Cystinosis is the most common cause of Fanconi's syndrome in children. Lowe's disease (oculocerebrorenal syndrome), a rare genetic disorder of the eyes, brain, and kidneys, can also cause Fanconi's syndrome. Another genetic defect that can cause Fanconi's syndrome is Wilson's disease, which causes copper to collect in the kidneys, liver, eyes, and other organs. Similarly, exposure to heavy metals, such as lead poisoning, can cause Fanconi's syndrome, even when there is no genetic disease. In adults, Fanconi's syndrome can be caused by various acquired disorders that damage the tubules of the kidneys. As in children, this damage can be caused by exposure to heavy metals such as lead, mercury, and cadmium.
|
.gif)
