Which of these statements is TRUE regarding living donor related transplantation in Fabry's Disease?
Renal Transplantation from a heterozygote female relative into a patient with Fabry is risky as globotriaosylceramide accumulation might be present in this donor, without clinical symptoms ( is a true statement)
The measurement of Alpha galactosidase A activity in a potential female living related donor for a patient with Fabry's is not sufficient as a normal value cannot exclude a random X chromosome inactivation( is a true statement as well)
Living related transplantation is possible in donors who do not have the mutation.( this is true)
Living related transplantation is possible in donors who do not have the mutation.( this is true)
One has to be careful with male donors as late onset Fabry's disease exists in males and they
develop proteinuria and renal failure after age of 25 years.( this is true)
Demonstration that the recipient's gene mutation is absent in the potential female relative donor is required before living related transplantation is performed in a patient with Fabry's ( also true)
Hence the answer is all of the above
Check out the Nature Review Nephrology Dec 2010 edition for Kidney Transplantation evals in Hereditary Nephropathies
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