A 78-yr-old white woman with ADPKD seeks counselling

By MEDCASE EDITOR - MD | Jul 6, 2020

A 78-yr-old white woman with ADPKD who has recently begun treatment with hemodialysis seeks your advice regarding evaluation of her 35-yr-old grandson, who is asymptomatic but anticipating marriage. He has recently undergone a renal ultrasound examination that disclosed no abnormalities.

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

Case reviewed by MEDCASE EDITOR

Designation: MD

ABIM BOARD CERTIFIED , NEPHROLOGY

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