Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
Ashima Gulati, Neera K. Dahl, Erum A. Hartung, Stephanie Clark, Asha Moudgil, Julie E. Goodwin, Stefan Somlo
Abstract
Key Points Autosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant PKD1 alleles with reduced expression. Hypomorphic PKD1 alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement. The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from PKD1 allele combinations.
Topics & Concepts
PKD1Autosomal dominant polycystic kidney diseaseAllelePolycystic kidney diseaseDiseaseKidney diseasePolycystic kidneyKidneyBiologyGeneticsMedicineInternal medicineEndocrinologyGeneGenetic and Kidney Cyst DiseasesRenal and related cancersGenetic Syndromes and Imprinting