title: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
abstract: Due to the poor prognosis of severe autosomal recessive polycystic kidney disease (ARPKD), there is a strong demand for prenatal diagnosis (PD). Reliable PD testing is possible by molecular genetic analysis only. Although haplotype-based analysis is feasible in most cases, it is associated with a risk of misdiagnosis in families without pathoanatomically proven diagnosis. Linkage analysis is impossible in families where DNA of the index patient is not available. Direct mutation analysis of the recently identified polycystic kidney and hepatic disease 1 gene opens new options in families to whom a reliable PD cannot be offered on the basis of linkage analysis. We for the first time report two cases with PD based on mutation detection, illustrating the new options for PD in ARPKD.
authors.affiliation: Institute for Human Genetics, Aachen University of Technology, Aachen, Germany. kzerres@ukaachen.de
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: J
authors.initials: J
authors.lastname: Senderek
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: T
authors.initials: T
authors.lastname: Eggermann
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: T
authors.initials: T
authors.lastname: Mononen
authors.forename: H
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: J
authors.initials: J
authors.lastname: Kirfel
authors.forename: M
authors.initials: M
authors.lastname: Moser
authors.forename: R
authors.initials: R
authors.lastname: Buettner
authors.forename: C
authors.initials: C
authors.lastname: Bergmann
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005333:Fetus / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008297:Male; D017354:Point Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels