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- Title
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
- Authors
Neumann, Hartmut P H; Bacher, Janina; Nabulsi, Zinaida; Ortiz Brüchle, Nadine; Hoffmann, Michael M; Schaeffner, Elke; Nürnberger, Jens; Cybulla, Markus; Wilpert, Jochen; Riegler, Peter; Corradini, Robert; Kraemer-Guth, Annette; Azurmendi, Pablo; Nunez, Mercedes; Gläsker, Sven; Zerres, Klaus; Jilg, Cordula
- Abstract
ADPKD is one of the most common inherited disorders, with high risk for end-stage renal disease. Numerous patients, however, have no relatives in whom this disorder is known and are unsure whether they may transmit the disease to their offsprings. The aim of this study was to evaluate whether germline mutation analysis adds substantial information to clinical symptoms for diagnosis of ADPKD in these patients.
- Publication
International urology and nephrology, 2012, Vol 44, Issue 6, p1753
- ISSN
1573-2584
- Publication type
Journal Article
- DOI
10.1007/s11255-012-0125-0