Conditions

Polycystic kidney disease (ADPKD)

A hereditary kidney disease

Dr. Camille Roux

Nephrologist

6 min read
Polycystic kidney disease (ADPKD)

The most common hereditary kidney disease

Autosomal dominant polycystic kidney disease affects 1 in 1000 people. Mutations in PKD1 or PKD2 lead to progressive cyst formation, gradually destroying renal function.

Symptoms

Often silent for a long time. Then: hypertension, flank pain, hematuria, recurrent urinary infections, kidney stones. End-stage renal failure around 50-70 years.

Treatments

  • Tolvaptan: vasopressin V2 receptor antagonist, slows progression
  • Strict blood pressure control (ACEi/ARB)
  • High water intake (>3L/day)
  • Low sodium diet
  • Dialysis then transplant at end-stage

Family screening

Renal ultrasound after age 18 for first-degree relatives. Genetic counseling for procreation.

#kidney#ADPKD#genetic