Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom

We report a case of a 58-year-old woman presenting with worsening arterial hypertension and a history of symptomatic stone disease. Detailed family pedigree analysis, appropriate imaging studies, and genomic sequencing identified a novel pathogenic variant in the PKD2 gene, c.1262C>A (p. Ala421Glu), confirming the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). To the best of our knowledge, this case study represents the first documented report of the causative role of c.1262C>A (p. Ala421Glu) variant in the ADPKD phenotype.