Naslov
The new mutation in PKD2 for early onset of ADPKD

Autori
Saraga, Marijan ; Fridl, Vesna ; Tomas, Sandra Zekic ; Arapovic, Adela ; Prgomet, Sandra ; Culic, Vida

Izvornik
Pediatric Nephrology (0931-041X) 32 (2017), 9; 1759-1759

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, ostalo, znanstveni

Ključne riječi
ADPKD ; PKD2 ; mutation

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA