engleski

The new mutation in PKD2 for early onset of ADPKD

Despite the claims that mutations in PKD2 have a mild clinical presentation, our patient developed early onset ADPKD with fatal outcome. At the other hand, some other family members have not been affected or only minimally affected. This newly described mutation of PKD2 gene might be responsible for early onset ADPKD. In that sense, it would be useful to collect as much patients with early onset ADPKD as possible and make their genetic analysis in order to check whether they are caused by the same or similar mutations.

ADPKD ; PKD2 ; mutation

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