Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype

Autosomal dominant polycystic kidney disease (ADPKD) is the prevalent inherited renal disease worldwide. Cystogenesis originates focally in the tubule and usually starts in utero although ADPKD symptoms usually develop in the fourth decade. The progressive cystic enlargement leads to end-stage renal disease in approximately 70% of patients with a median age of 58 years. Family history is present in >85% of cases; in 10% to 15% of cases, a family history may be absent because of de novo mutation, mosaicism, or mild disease.