Autosomal dominant polycystic kidney disease without apparent family history: A single-center experience.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) - the most common hereditary kidney disease - accounts for nearly 5% of patients with kidney failure. Due to de novo mutations or other causes, nearly 25% of patients with a clinical diagnosis of PKD have no apparent family history. This poses a challenge for practicing nephrologists in making an accurate diagnosis. We evaluated ADPKD patients with and without a family history and compared genetic testing, kidney imaging, and kidney function results. We reviewed the genetic testing results of 54 PKD patients at Thomas Jefferson University Hospital between 2020 and 2024. A total of 38 patients (70%) had a family history of ADPKD. Of these patients, 92% had either a PKD1 or PKD2 disease-causing variant. 16 patients (30%) had no family history. Of these patients, 56% had either a PKD1 or PKD2 disease-causing variant and 19% had variants in minor genes associated with ADPKD. Five patients (9%) had no genetic diagnosis. We propose an algorithm to help classify patients with an ADPKD phenotype but without family history.