Polycystic kidney disease (ADPKD)
A hereditary kidney disease
Dr. Camille Roux
Nephrologist
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.
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