Fanconi's syndrome

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Fanconi syndrome
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 glucoseamino acidsuric acidphosphate and bicarbonate.
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Fanconi's syndrome
A rare and often fatal inherited disease in which the bone marrow fails to produce red blood cells, white blood cells, platelets, or a combination of these cells. The disease may transform into myelodysplastic syndrome or leukemia. Also called Fanconi anemia.

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fanconi syndrome
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This occurs in a juvenile form(De Toni-Fanconi-Debre syndrome);in adult life it is often acquired through, for example, heavy metal poisoning, drugs or some renal disease. There is defective tubular absorption of:
*most amino acid
*glucose
*urea
*phosphate, resulting in hypophosphataemic rickets
*bicarbonate, with failure to transport hydrogen ions, causing a renal tubular acidosis that then produces a hyperchloraemia.
Other abnormalities
*potassium depletion,primary or secondary to acidosis.
*polyuria
*increase excretion of immunoglobulins and other
low-molecular-weight proteins.


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