Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.

Key PointsAutosomal dominant polycystic kidney disease (ADPKD) manifesting earlier than expected on the basis of family history can identify clinically tolerant alleles with reduced expression.PKD1Hypomorphic alleles can cause mild kidney disease or liver cysts in the absence of clinically manifest kidney involvement.PKD1The presented data highlight pleiotropic ADPKD clinical presentations and varying severity of kidney disease from PKD1 allele combinations.