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

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

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.

Affiliation

Bleyer AJ; Section on Nephrology, Wake Forest University School of Medicine, Winston- Salem, NC 27157, USA. ableyer@wfubmc.edu

Clin Nephrol ; 74(6): 411-22, 2010 Dec.

Article in En | MEDLINE | ID: mdl-21084044

Subject(s)

Fludrocortisone/therapeutic use; Genes, Dominant; Kidney Diseases/drug therapy; Kidney Diseases/genetics; Mutation; Protein Sorting Signals/genetics; Renin/genetics; Adult; Amino Acid Sequence; Anemia/genetics; Anemia/metabolism; Base Sequence; Biopsy; Blood Pressure/drug effects; Blood Pressure/genetics; Cell Line; Child; Chronic Disease; Chymosin; Cytoplasm/metabolism; DNA Mutational Analysis; Endoplasmic Reticulum/metabolism; Enzyme Precursors; Female; Genetic Predisposition to Disease; Glomerular Filtration Rate/drug effects; Glomerular Filtration Rate/genetics; Glycosylation; Heterozygote; Humans; Hyperuricemia/genetics; Hyperuricemia/metabolism; Hypoaldosteronism/genetics; Hypoaldosteronism/metabolism; Kidney Concentrating Ability/genetics; Kidney Diseases/metabolism; Kidney Diseases/pathology; Kidney Diseases/physiopathology; Male; Molecular Sequence Data; Pedigree; Phenotype; Polyuria/genetics; Polyuria/metabolism; Protein Processing, Post-Translational; Protein Transport; Renin/metabolism; Transfection; Treatment Outcome

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Full text: 1 Database: MEDLINE Main subject: Protein Sorting Signals / Fludrocortisone / Renin / Genes, Dominant / Kidney Diseases / Mutation Type of study: Prognostic_studies Language: En Year: 2010 Type: Article

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