Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
University Hospital, Brest
* Inclusion of ADPKD patients in 20 different centers of Nephrology in the Western part of France
* Characterization of the Phenotype
* Collect DNA sample
* Analysis of PKD1 and PKD2 genes first
* Analysis of HNFIb and UMOD for PKD1 and PKD2 negative patients
* Recruitment of affected and non-affected relatives of PKD1 and PKD2 negative ADPKD patients
* Identify new genes involved in ADPKD using exome sequencing in PKD1 and PKD2 negative pedigrees
Age
16–any
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Patients with a diagnosis of ADPKD
Written Informed Consent
Affiliated or benefiting from a national insurance
Relatives with a diagnosis of ADPKD (ADPKD relatives)
And Relatives over age 30 for whom the diagnosis of ADPKD has been discarded (non ADPKD relatives) with renal ultrasonography performed after age 30.
Written Informed consent
Affiliated or benefiting from a national insurance
You may not be if
Subjects unable to provide written informed consent
Previous Molecular analysis of PKD1 and PKD2 genes with identification of the pathogenic mutation
Subjects unable to provide written informed consent
