title: Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.
abstract: BACKGROUND
  As we emerge into the genomic medicine era, the epidemiology of diseases is taken for granted. Accurate prevalence figures, especially of rare diseases (RDs, ≤50/100,000), will become even more important for purposes of health care and societal planning. We noticed that the numbers of affected individuals in regionally established registries for mainly hereditary RDs do not align with published estimated and expected prevalence figures. We therefore hypothesized that such non-population-based means overestimate RDs and sought to address this by recalculating prevalence for an important 'common' hereditary disease, autosomal-dominant polycystic kidney disease (ADPKD) whereby presumed-prevalence is 100-250/100,000 METHODS: The Else-Kroener-Fresenius-ADPKD-Study in south-west Germany with a population of 2,727,351 inhabitants was established with the cooperation of all nephrology centres. Furthermore, general practitioners, internists, urologists, human geneticists and neurosurgery centres were contacted with questionnaires for demographic, family and kidney function data. Germline-mutation screening of susceptibility genes PKD1 and PKD2 was offered. Official population data for 2010 were used for overall and kidney function-adjusted prevalence estimations.
  
  
  RESULTS
  A total of 891 subjects, 658 index-cases and 233 relatives, aged 10-89 (mean 52), were registered, with >90% response rate, 398 by nephrologists and 493 by non-nephrologists. Molecular-genetic analyses contributed to confirmation of the diagnosis in 57%. The overall prevalence of ADPKD was 32.7/100,000 reaching a maximum of 57.3/100,000 in the 6th decade of life.
  
  
  CONCLUSIONS
  Prevalence of ADPKD is overestimated by 2- to 5-fold and close to the limit of RDs which may be of broad clinical, logistic and policy implications.
authors.affiliation: Department of Nephrology and General Medicine, Medical University Center, Albert-Ludwigs-University, Freiburg, Germany. hartmut.neumann@uniklinik-freiburg.de
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Cordula
authors.initials: C
authors.lastname: Jilg
authors.forename: Janina
authors.initials: J
authors.lastname: Bacher
authors.forename: Zinaida
authors.initials: Z
authors.lastname: Nabulsi
authors.forename: Angelica
authors.initials: A
authors.lastname: Malinoc
authors.forename: Barbara
authors.initials: B
authors.lastname: Hummel
authors.forename: Michael M
authors.initials: MM
authors.lastname: Hoffmann
authors.forename: Nadina
authors.initials: N
authors.lastname: Ortiz-Bruechle
authors.forename: Sven
authors.initials: S
authors.lastname: Glasker
authors.forename: Przemyslaw
authors.initials: P
authors.lastname: Pisarski
authors.forename: Hannes
authors.initials: H
authors.lastname: Neeff
authors.forename: Annette
authors.initials: A
authors.lastname: Krämer-Guth
authors.forename: Markus
authors.initials: M
authors.lastname: Cybulla
authors.forename: Martin
authors.initials: M
authors.lastname: Hornberger
authors.forename: Jochen
authors.initials: J
authors.lastname: Wilpert
authors.forename: Ludwig
authors.initials: L
authors.lastname: Funk
authors.forename: Jörg
authors.initials: J
authors.lastname: Baumert
authors.forename: Dietrich
authors.initials: D
authors.lastname: Paatz
authors.forename: Dieter
authors.initials: D
authors.lastname: Baumann
authors.forename: Markus
authors.initials: M
authors.lastname: Lahl
authors.forename: Helmut
authors.initials: H
authors.lastname: Felten
authors.forename: Martin
authors.initials: M
authors.lastname: Hausberg
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D018095:Germ-Line Mutation / Q000235:genetics*; D005858:Germany / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D016891:Polycystic Kidney, Autosomal Dominant / Q000453:epidemiology*; D015995:Prevalence; D011379:Prognosis; D012042:Registries; D050396:TRPP Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050396:TRPP Cation Channels
keywords: autosomal-dominant polycystic kidney disease; epidemiology of inherited disorders; prevalence estimation