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NDT Plus Advance Access originally published online on July 11, 2008
NDT Plus 2008 1(5):289-291; doi:10.1093/ndtplus/sfn103
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© The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss

Ramón Peces1, Carlos Peces2, Eliecer Coto3 and Rafael Selgas1

1 Servicio de Nefrología, Hospital Universitario La Paz, Madrid
2 Area de Tecnología del SESCAM, Toledo
3 Genética Molecular, Hospital Central de Asturias, Oviedo, Instituto Reina Sofía de Investigación Nefrológica, Spain

Correspondence: Correspondence and offprint requests to: Ramón Peces, Servicio de Nefrología, Hospital Universitario La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain. Tel: +34-917277224; Fax: +34-917277133; E-mail: cpeces{at}varnet.com


  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.

Key Words: autosomal dominant polycystic kidney disease (ADPKD) • bilineal disease • compound heterozygous • PKD1

Received for publication March 23, 2008. Accepted for publication June 23, 2008.


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