EP087: Identification of an apparently de novo PKD1 variant in a patient with polycystic kidneys, renal angiomyolipoma, and lymphangioleiomyomatosis

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney diseases with a prevalence of approximately 1 in 1,000. Variants in multiple genes are known to cause this clinical phenotype including PKD1 (most common), PKD2, GANAB, and DNAJB11. While generally inherited, approximately 10% of ADPKD cases are caused by a de novo variant. Here we describe a case of an apparently de novo PKD1 variant identified in an ADPKD patient with unusual features through consultation with clinical genetics at an academic medical center.