title: Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Nephrology, Section of Preventive Medicine, Albert-Ludwigs-University, Freiburg, Germany. hartmut.neumann@uniklinik-freiburg.de
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Janina
authors.initials: J
authors.lastname: Bacher
authors.forename: Zinaida
authors.initials: Z
authors.lastname: Nabulsi
authors.forename: Nadine
authors.initials: N
authors.lastname: Ortiz Brüchle
authors.forename: Michael M
authors.initials: MM
authors.lastname: Hoffmann
authors.forename: Elke
authors.initials: E
authors.lastname: Schaeffner
authors.forename: Jens
authors.initials: J
authors.lastname: Nürnberger
authors.forename: Markus
authors.initials: M
authors.lastname: Cybulla
authors.forename: Jochen
authors.initials: J
authors.lastname: Wilpert
authors.forename: Peter
authors.initials: P
authors.lastname: Riegler
authors.forename: Robert
authors.initials: R
authors.lastname: Corradini
authors.forename: Annette
authors.initials: A
authors.lastname: Kraemer-Guth
authors.forename: Pablo
authors.initials: P
authors.lastname: Azurmendi
authors.forename: Mercedes
authors.initials: M
authors.lastname: Nunez
authors.forename: Sven
authors.initials: S
authors.lastname: Gläsker
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Cordula
authors.initials: C
authors.lastname: Jilg
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D050396:TRPP Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050396:TRPP Cation Channels