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Gene mutations can predict early and severe ADPKD

October 28th, 2011

Healthy kidneyNew research has revealed that gene mutations are able to predict an early and severe form of kidney disease.

Known as autosomal dominant polycystic kidney disease (ADPKD), which is passed down through family members, the condition eventually leads to failure of the organ and can affect one in 400 to 1,000 people. It is caused by a genetic mutation which disrupts how the kidney develops, with PKD1 accounting for 85 per cent of cases and PKD2 to blame for the remaining 15 per cent, according to the NHS. However, the new research, conducted by Carsten Bergmann and his colleagues from the Bioscientia Center for Human Genetics Ingelheim and RWTH Aachen University, Germany, has shown that severely affected patients have further mutations, along with expected inherited genetic defects.

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