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Article

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

Clinical nephrology - 1 Dec 2010

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

Abstract excerpt

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...

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Identifiers

PMID: 21084044
DOI: 10.5414/cnp74411
PMCID: PMC4264543

Genes

REN

Variants

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