PKD1 mosaicism associated with severe renal, hepatic, and vascular phenotype.

Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in or genes. Mosaicism is characterized by a post-zygotic mutation resulting in the presence of two or more populations of cells with different genotypes in an individual. Mosaicism of , rarely identified by conventional Sanger sequencing, is more easily detected using next generation sequencing techniques (NGS). mosaicism has classically been associated with either milder kidney disease, asymmetric kidney disease, and/or negative family history. We report the case of a patient presenting severe renal, hepatic, and vascular phenotype secondary to mosaicism, with a surprisingly low percentage of mutant allele in the patient's kidney and liver tissue. We reviewed clinical presentations of reported cases of mosaicism.