The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.

@article{Rossetti2002ThePO,
  title={The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease.},
  author={Sandro Rossetti and Sarah Burton and Lana Strmecki and Gregory R. Pond and J L San Mill{\'a}n and Klaus Zerres and Thomas M. Barratt and Seza Ozen and Vicente E. Torres and Erik J. Bergstralh and Christopher G. Winearls and Peter C. Harris},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2002},
  volume={13 5},
  pages={1230-7}
}
The severity of renal cystic disease in the major form of autosomal dominant polycystic kidney disease (PKD1) is highly variable. Clinical data was analyzed from 324 mutation-characterized PKD1 patients (80 families) to document factors associated with the renal outcome. The mean age to end-stage renal disease (ESRD) was 54 yr, with no significant difference between men and women and no association with the angiotensin-converting enzyme polymorphism. Considerable intrafamilial variability was… CONTINUE READING