Screening for CLCN5 mutation in renal calcium stone formers patients
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| Format: | Artículo científico |
| Language: | en |
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Academia Brasileira de Ciências
2005
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| _version_ | 1876477176061100032 |
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| author | Maria Alice P. Rebelo |
| author_facet | Maria Alice P. Rebelo |
| contents | Screening for CLCN5 mutation in renal calcium stone formers patients Maria Alice P. Rebelo Vera Tostes Nordeval C. Araújo Bruno F. Botelho William B. Gugginio Sabrina V. Martini Marcelo M. Morales Multidisciplinaria (Ciencias Naturales y Exactas) low molecular CLCN5 mutation nephrolithiasis nephrocalcinosis Thirty-fivepatients(23malesand12females),age35±13yearsold,presentingeitheridiopathiccalciumnephrolithiasis,nephrocalcinosisormildrenalfailurewithidiopathiccalciumnephrolithiasiswereselectedfortheanalysisoflowmolecularweightproteinuriaandthepossiblemutationsoccurrenceinthechloridechannelgeneCLCN5.Theurinaryratioofβ2-microglobulinandcreatinine(β2M/Cr)wasveryhighinatransplantedwomanwithnephrocalcinosis(>3.23mg/mmol)andslightlyhighinfivepatients(>0.052or<1.0mg/mmol)withmultipleurologicalmanipulations.Otherstudiedpatientsshowedβ2M/Crratioatnormalrange(0.003-0.052mg/mmol)withoutgenderdifference(p>0.05).MutationanalysisofCLCN5genewasperformedin26patientsof35selected(11withidiopathichypercalciuria;6menwithnormalcalciuria;3withmildrenalinsufficiencyand6withnephrocalcinosis)andwasnormalinallsubjectseveninthosewithabnormalmolecularweightproteinuria.Conclusion:CLCN5genemutationisnotacommoncauseofkidneystonediseaseornephrocalcinosisinagroupofBrazilianpatientsstudied. 2005 artículo científico 0001-3765 https://www.redalyc.org/articulo.oa?id=32777107 en http://www.redalyc.org/revista.oa?id=327 Anais da Academia Brasileira de Ciências application/pdf Academia Brasileira de Ciências Anais da Academia Brasileira de Ciências (Brasil) Num.1 Vol.77 |
| format | Artículo científico |
| id | redalyc_32777107 |
| institution | Redalyc |
| language | en |
| publishDate | 2005 |
| publisher | Academia Brasileira de Ciências |
| spellingShingle | Screening for CLCN5 mutation in renal calcium stone formers patients Maria Alice P. Rebelo Multidisciplinaria (Ciencias Naturales y Exactas) low molecular CLCN5 mutation nephrolithiasis nephrocalcinosis Screening for CLCN5 mutation in renal calcium stone formers patients Maria Alice P. Rebelo Vera Tostes Nordeval C. Araújo Bruno F. Botelho William B. Gugginio Sabrina V. Martini Marcelo M. Morales Multidisciplinaria (Ciencias Naturales y Exactas) low molecular CLCN5 mutation nephrolithiasis nephrocalcinosis Thirty-fivepatients(23malesand12females),age35±13yearsold,presentingeitheridiopathiccalciumnephrolithiasis,nephrocalcinosisormildrenalfailurewithidiopathiccalciumnephrolithiasiswereselectedfortheanalysisoflowmolecularweightproteinuriaandthepossiblemutationsoccurrenceinthechloridechannelgeneCLCN5.Theurinaryratioofβ2-microglobulinandcreatinine(β2M/Cr)wasveryhighinatransplantedwomanwithnephrocalcinosis(>3.23mg/mmol)andslightlyhighinfivepatients(>0.052or<1.0mg/mmol)withmultipleurologicalmanipulations.Otherstudiedpatientsshowedβ2M/Crratioatnormalrange(0.003-0.052mg/mmol)withoutgenderdifference(p>0.05).MutationanalysisofCLCN5genewasperformedin26patientsof35selected(11withidiopathichypercalciuria;6menwithnormalcalciuria;3withmildrenalinsufficiencyand6withnephrocalcinosis)andwasnormalinallsubjectseveninthosewithabnormalmolecularweightproteinuria.Conclusion:CLCN5genemutationisnotacommoncauseofkidneystonediseaseornephrocalcinosisinagroupofBrazilianpatientsstudied. 2005 artículo científico 0001-3765 https://www.redalyc.org/articulo.oa?id=32777107 en http://www.redalyc.org/revista.oa?id=327 Anais da Academia Brasileira de Ciências application/pdf Academia Brasileira de Ciências Anais da Academia Brasileira de Ciências (Brasil) Num.1 Vol.77 |
| title | Screening for CLCN5 mutation in renal calcium stone formers patients |
| topic | Multidisciplinaria (Ciencias Naturales y Exactas) low molecular CLCN5 mutation nephrolithiasis nephrocalcinosis |
| url | https://www.redalyc.org/articulo.oa?id=32777107 |