Gene mutations link for kidney diseases:
This article was originally published in Clinica
US researchers claim to have identified mutations in a gene that are responsible for two heritable, juvenile-onset kidney diseases, medullary cystic kidney disease and familial juvenile hyperuricaemic nephropathy. The four mutations - the first to be discovered in the uromodulin gene - may lead to the development of an early genetic test to enable doctors to identify clinically-unaffected family members with the gene defect. This would allow for early preventative intervention before significant pathology has occurred, say the researchers, whose findings appear in the Journal of Medical Genetics (December).
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