The diagnosis and prognosis of autosomal dominant polycystic kidney disease.

  title={The diagnosis and prognosis of autosomal dominant polycystic kidney disease.},
  author={Patrick S Parfrey and John C Bear and Justin Morgan and Benvon C. Cramer and P. F. McManamon and M. Henry Gault and David N. Churchill and Manjeet Singh and Rebecca Hewitt and Stefan Somlo},
  journal={The New England journal of medicine},
  volume={323 16},
BACKGROUND Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized. METHODS We studied 17 families with autosomal dominant polycystic kidney disease to compare presymptomatic diagnosis by ultrasonography with diagnosis by… CONTINUE READING
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