Risk Prediction Using Genetic Scoring
For some patients, such as those younger than 35 years and those missing clinical data, the Predicting Renal Outcome in Polycystic Kidney Disease (PROPKD) score cannot be applied.50 In these cases, genetic scoring may be carried out, comprising only genetic data and gender. In this scoring system, patients fall into 1 of 4 prognostic groups:
- patients with PKD2 mutations (1 point)
- patients with nontruncating PKD1 mutations (2 points)
- women with truncating PKD1 mutations (3 points)
- men with truncating PKD1 mutations (4 points)
Patients with a genetic score ≥2 points have a predicted onset of ESRD before age 65 years. Although genetic scoring is less accurate than the PROPKD score, it offers good prediction of ESRD.