Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.

@article{Bleyer2010ClinicalAM,
  title={Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone.},
  author={Anthony J. Bleyer and Martina Živn{\'a} and Helena Hůlkov{\'a} and Kateřina Hodaňov{\'a} and Petr Vyleťal and Jakub Sikora and Jan Zivn{\'y} and Jana Sovov{\'a} and Thomas C. Hart and Jeremy N Adams and Milan Elleder and Katja Kapp and Robert M. Haws and Lynn D. Cornell and Stanislav Kmoch and Patricia S. Hart},
  journal={Clinical nephrology},
  year={2010},
  volume={74 6},
  pages={411-22}
}
BACKGROUND A family was identified with autosomal dominant inheritance of anemia, polyuria, hyperuricemia, and chronic kidney disease. Mutational analysis revealed a novel heterozygous mutation c.58T > C resulting in the amino acid substitution of cysteine for arginine in the preprorenin signal sequence (p.cys20Arg) occurring in all affected members. METHODS Effects of the identified mutation were characterized using in vitro and in vivo studies. Affected individuals were clinically… CONTINUE READING