Adult polycystic kidney disease

Case contributed by Satish Kumar Gupta
Diagnosis certain

Presentation

Heaviness in both flanks for several months. Incidental diagnosis of bilateral polycystic kidneys on ultrasound examination.

Patient Data

Age: 30 years
Gender: Female

Adult polycystic kidneys

ultrasound

Both kidneys are enlarged and show multiple cysts of variable sizes. Color Doppler shows good flow in renal parenchyma. An adequately filled urinary bladder and good ureteric jet suggest preserved renal function. The liver showed no cysts.

Case Discussion

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder, but mostly, the symptoms develop between the ages of 30 and 40 years, as in this case. The most common symptom is flank pain. Other symptoms include hematuria, high blood pressure, renal stones and repeated urinary tract infections. The clinical course is highly variable, from asymptomatic to renal failure, seen in nearly 50% of patients by the age of 75 years 1.

Screening ultrasound of other siblings or parents helps diagnose the disease in the family. However, in 15% of cases, other family members may not show any renal cysts as the disease can develop by spontaneous gene mutation 2.

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