title: Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss.
abstract: We report for the first time a family with type 1 ADPKD in which the marriage between affected non-consanguinous individuals resulted in two live-born heterozygous offspring and two fetuses lost in mid-pregnancy. Given a 25% chance for mutant compound heterozygosity in the offspring of this family, our findings suggest that compound heterozygosity of PKD1 mutations in humans may be embryonically lethal.
authors.affiliation: Servicio de Nefrología , Hospital Universitario La Paz , Madrid.
authors.forename: Ramón
authors.initials: R
authors.lastname: Peces
authors.affiliation: Area de Tecnología del SESCAM, Toledo.
authors.forename: Carlos
authors.initials: C
authors.lastname: Peces
authors.affiliation: Genética Molecular , Hospital Central de Asturias , Oviedo, Instituto Reina Sofía de Investigación Nefrológica , Spain.
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.affiliation: Servicio de Nefrología , Hospital Universitario La Paz , Madrid.
authors.forename: Rafael
authors.initials: R
authors.lastname: Selgas
keywords: PKD1; autosomal dominant polycystic kidney disease (ADPKD); bilineal disease; compound heterozygous