Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes

Hartmut P H Neumann, Janina Bacher, Zinaida Nabulsi, Nadine Ortiz Brüchle, Michael M Hoffmann, Elke Schaeffner, Jens Nürnberger, Markus Cybulla, Jochen Wilpert, Peter Riegler, Robert Corradini, Annette Kraemer-Guth, Pablo Azurmendi, Mercedes Nunez, Sven Gläsker, Klaus Zerres, Cordula Jilg

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15 Citations (Scopus)


BACKGROUND: 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.

METHODS: Clinical data included renal function and presence of liver or pancreas cysts, heart valve insufficiency, intracranial aneurysms, colonic diverticles, and abdominal hernias. Family history was evaluated regarding ADPKD. Germline mutation screening of the PKD1 and PKD2 genes was performed for intragenic mutations and for large deletions.

RESULTS: A total of 324 adult patients with ADPKD including 30 patients without a family history of ADPKD (sporadic cases) were included. PKD1 mutations were found in 24/30 and PKD2 mutations in 6 patients. Liver cysts were present in 14 patients and intracranial aneurysms in 2 patients. Fourteen patients (45%) had no extrarenal involvement. Compared to the 294 patients with familial ADPKD, the clinical characteristics and the age at the start of dialysis were similar in those with sporadic ADPKD.

CONCLUSION: The clinical characteristics of patients with sporadic and familial ADPKD are similar, but sporadic ADPKD is often overlooked because of the absence of a family history. Molecular genetic screening for germline mutations in both PKD1 and PKD2 genes is essential for the definitive diagnosis of ADPKD.

Original languageEnglish
Pages (from-to)1753-1762
Number of pages10
JournalInternational Urology and Nephrology
Issue number6
Publication statusPublished - Dec 2012


  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Polycystic Kidney Diseases
  • TRPP Cation Channels
  • Young Adult
  • Journal Article
  • Research Support, Non-U.S. Gov't


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