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

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

A J AJ Bleyer, M M Zivná, H H Hulková, K K Hodanová, P P Vyletal, J J Sikora, J J Zivný, J J Sovová, T C TC Hart, J N JN Adams, M M Elleder, K K Kapp, R R Haws, L D LD Cornell, S S Kmoch, and P S PS Hart

Clin Nephrol 74(6):411-22 (2010) PMID 21084044

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.

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

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