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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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.