| |  Online-Ressource |
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| Verfasst von: | Bleyer, Anthony J. [VerfasserIn]  |
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| | Zivná, M. [VerfasserIn] |
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| | Hulková, H. [VerfasserIn] |
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| | Hodanová, K. [VerfasserIn] |
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| | Vyletal, P. [VerfasserIn] |
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| | Sikora, J. [VerfasserIn] |
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| | Zivný, J. [VerfasserIn] |
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| | Sovová, J. [VerfasserIn] |
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| | Hart, T. C. [VerfasserIn] |
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| | Adams, J. N. [VerfasserIn] |
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| | Elleder, M. [VerfasserIn] |
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| | Kapp, Katharina [VerfasserIn] |
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| | Haws, R. [VerfasserIn] |
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| | Cornell, L. D. [VerfasserIn] |
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| | Kmoch, S. [VerfasserIn] |
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| | Hart, P. S. [VerfasserIn] |
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| Titel: | Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone |
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| Verf.angabe: | A.J. Bleyer, M. Zivná, H. Hulková, K. Hodanová, P. Vyletal, J. Sikora, J. Zivný, J. Sovová, T.C. Hart, J.N. Adams, M. Elleder, K. Kapp, R. Haws, L.D. Cornell, S. Kmoch, and P.S. Hart |
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| E-Jahr: | 2010 |
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| Jahr: | 2010 December |
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| Umfang: | 24 S. |
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| Fussnoten: | Gesehen am 15.02.2023 |
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| Titel Quelle: | Enthalten in: International journal of radiation oncology, biology, physics |
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| Ort Quelle: | Amsterdam [u.a.] : Elsevier Science, 1975 |
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| Jahr Quelle: | 2010 |
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| Band/Heft Quelle: | 74(2010), 6, Seite 411-422 |
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| ISSN Quelle: | 1879-355X |
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| Abstract: | 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 characterized before and after administration of fludrocortisone. - RESULTS: The mutation affects endoplasmic reticulum co-translational translocation and posttranslational processing, resulting in massive accumulation of non-glycosylated preprorenin in the cytoplasm. This affects expression of intra-renal RAS components and leads to ultrastructural damage of the kidney. Affected individuals suffered from anemia, hyperuricemia, decreased urinary concentrating ability, and progressive chronic kidney disease. Treatment with fludrocortisone in an affected 10-year-old child resulted in an increase in blood pressure and estimated glomerular filtration rate. - CONCLUSIONS: A novel REN gene mutation resulted in an alteration in the amino acid sequence of the renin signal sequence and caused childhood anemia, polyuria, and kidney disease. Treatment with fludrocortisone improved renal function in an affected child. Nephrologists should consider REN mutational analysis in families with autosomal dominant inheritance of chronic kidney disease, especially if they suffer from anemia, hyperuricemia, and polyuria in childhood. |
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| DOI: | doi:10.5414/cnp74411 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
DOI: https://doi.org/10.5414/cnp74411 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Adult |
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| | Amino Acid Sequence |
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| | Anemia |
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| | Base Sequence |
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| | Biopsy |
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| | Blood Pressure |
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| | Cell Line |
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| | Child |
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| | Chronic Disease |
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| | Chymosin |
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| | Cytoplasm |
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| | DNA Mutational Analysis |
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| | Endoplasmic Reticulum |
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| | Enzyme Precursors |
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| | Female |
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| | Fludrocortisone |
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| | Genes, Dominant |
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| | Genetic Predisposition to Disease |
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| | Glomerular Filtration Rate |
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| | Glycosylation |
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| | Heterozygote |
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| | Humans |
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| | Hyperuricemia |
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| | Hypoaldosteronism |
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| | Kidney Concentrating Ability |
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| | Kidney Diseases |
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| | Male |
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| | Molecular Sequence Data |
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| | Mutation |
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| | Pedigree |
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| | Phenotype |
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| | Polyuria |
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| | Protein Processing, Post-Translational |
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| | Protein Sorting Signals |
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| | Protein Transport |
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| | Renin |
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| | Transfection |
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| | Treatment Outcome |
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| K10plus-PPN: | 1835719147 |
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| Verknüpfungen: | → Zeitschrift |
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Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone / Bleyer, Anthony J. [VerfasserIn]; 2010 December (Online-Ressource)
