Explanation:
This patient almost certainly has Type 2 ADPKD due to a mutation of the polycystin gene on Chromosome 4. Patients with Type 2 ADPKD are usually much older at the time of discovery and have a slower progression of disease. Screening of offspring after age 30 (with ultrasound or CT) is highly effective in detecting affected individuals. Further testing with CT or MRI is likely to confirm the findings by ultrasound, but this issue has not been well studied in Type 2 ADPKD.
- Torra R, Badenas C, Perez-Oller L, et al: Increased prevalence of polycystic kidney disease Type 2 among elderly polycystic patients. Am J Kid Dis 36: 728-734, 2000
- Demetriou K, Tziakouri C, Anninou K, et al: Autosomal dominant polycystic kidney disease—Type 2: Ultrasound, genetic and clinical correlations. Nephrol Dial Transplant 15: 205-211, 2000
