Fanconi syndrome is a disease of the proximal renal tubules of the - TopicsExpress



          

Fanconi syndrome is 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 Anaemia is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of Fanconi anaemia patients develop cancer, most often acute myelogenous leukemia , and 90% develop bone marrow failure by age 40. About 60–75% of FA patients have congenital defects , commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death is 30 years
Posted on: Sun, 13 Jul 2014 05:46:52 +0000

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