Tuesday 21 January 2014

FANCONI SYNDROME: A predisposing factor for Leukemia


Fanconi syndrome is a renal syndrome of idiopathic origin and it is also characterized by poluria, polydipsia and dehydration.
Fanconi syndrome is due to various causes, some inherited and some acquired. The incidence of each of these conditions is different, although almost all of them are rather rare. The circumstances surrounding this disorder remains an object of debate. The major area affected is the proximal tubules.
Its been proposed that one of these mechanisms explains its pathogenesis
 The 3 main categories in which they can be classified are (1) alterations in the function of the carriers that transport substances across the luminal membrane, (2) disturbances in cellular energy metabolism, and (3) changes in permeability characteristics of the tubular membranes.
The pathogenesis has further been linked up with cystinosis in children.The disease is caused by the accumulation of cystine in renal tubule cells.

The clinical features that cause patients to seek medical care include polyuria, polydipsia, bouts of dehydration (sometimes associated with fever), bone deformities, and impaired growth. Less often, the reasons for investigation are laboratory findings such as proteinuria, hypokalemia, hypophosphatemia, and hyperchloremic metabolic acidosis.

Then remember that due to its effect on bone and kidney production of hormones, Leukemia and Anemia do occur. 

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