Screening for CLCN5 mutation in renal calcium stone formers patients

Detalhes bibliográficos
Autor(a) principal: Rebelo,Maria Alice P.
Data de Publicação: 2005
Outros Autores: Tostes,Vera, Araújo,Nordeval C., Martini,Sabrina V., Botelho,Bruno F., Guggino,William B., Morales,Marcelo M.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Anais da Academia Brasileira de Ciências (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652005000100007
Resumo: Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5. The urinary ratio of beta2-microglobulin and creatinine (beta2M/Cr) was very high in a transplanted woman with nephrocalcinosis (>3.23 mg/mmol) and slightly high in five patients (>0.052 or < 1.0 mg/mmol) with multiple urological manipulations. Other studied patients showed beta2M/Cr ratio at normal range (0.003-0.052 mg/mmol) without gender difference (p > 0.05). Mutation analysis of CLCN5 gene was performed in 26 patients of 35 selected (11 with idiopathic hypercalciuria; 6 men with normal calciuria; 3 with mild renal insufficiency and 6 with nephrocalcinosis) and was normal in all subjects even in those with abnormal molecular weight proteinuria. Conclusion: CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.
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spelling Screening for CLCN5 mutation in renal calcium stone formers patientsnephrolithiasisnephrocalcinosislow-molecular-weight proteinuriCLCN5 mutationThirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5. The urinary ratio of beta2-microglobulin and creatinine (beta2M/Cr) was very high in a transplanted woman with nephrocalcinosis (>3.23 mg/mmol) and slightly high in five patients (>0.052 or < 1.0 mg/mmol) with multiple urological manipulations. Other studied patients showed beta2M/Cr ratio at normal range (0.003-0.052 mg/mmol) without gender difference (p > 0.05). Mutation analysis of CLCN5 gene was performed in 26 patients of 35 selected (11 with idiopathic hypercalciuria; 6 men with normal calciuria; 3 with mild renal insufficiency and 6 with nephrocalcinosis) and was normal in all subjects even in those with abnormal molecular weight proteinuria. Conclusion: CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.Academia Brasileira de Ciências2005-03-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652005000100007Anais da Academia Brasileira de Ciências v.77 n.1 2005reponame:Anais da Academia Brasileira de Ciências (Online)instname:Academia Brasileira de Ciências (ABC)instacron:ABC10.1590/S0001-37652005000100007info:eu-repo/semantics/openAccessRebelo,Maria Alice P.Tostes,VeraAraújo,Nordeval C.Martini,Sabrina V.Botelho,Bruno F.Guggino,William B.Morales,Marcelo M.eng2005-02-01T00:00:00Zoai:scielo:S0001-37652005000100007Revistahttp://www.scielo.br/aabchttps://old.scielo.br/oai/scielo-oai.php||aabc@abc.org.br1678-26900001-3765opendoar:2005-02-01T00:00Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC)false
dc.title.none.fl_str_mv Screening for CLCN5 mutation in renal calcium stone formers patients
title Screening for CLCN5 mutation in renal calcium stone formers patients
spellingShingle Screening for CLCN5 mutation in renal calcium stone formers patients
Rebelo,Maria Alice P.
nephrolithiasis
nephrocalcinosis
low-molecular-weight proteinuri
CLCN5 mutation
title_short Screening for CLCN5 mutation in renal calcium stone formers patients
title_full Screening for CLCN5 mutation in renal calcium stone formers patients
title_fullStr Screening for CLCN5 mutation in renal calcium stone formers patients
title_full_unstemmed Screening for CLCN5 mutation in renal calcium stone formers patients
title_sort Screening for CLCN5 mutation in renal calcium stone formers patients
author Rebelo,Maria Alice P.
author_facet Rebelo,Maria Alice P.
Tostes,Vera
Araújo,Nordeval C.
Martini,Sabrina V.
Botelho,Bruno F.
Guggino,William B.
Morales,Marcelo M.
author_role author
author2 Tostes,Vera
Araújo,Nordeval C.
Martini,Sabrina V.
Botelho,Bruno F.
Guggino,William B.
Morales,Marcelo M.
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Rebelo,Maria Alice P.
Tostes,Vera
Araújo,Nordeval C.
Martini,Sabrina V.
Botelho,Bruno F.
Guggino,William B.
Morales,Marcelo M.
dc.subject.por.fl_str_mv nephrolithiasis
nephrocalcinosis
low-molecular-weight proteinuri
CLCN5 mutation
topic nephrolithiasis
nephrocalcinosis
low-molecular-weight proteinuri
CLCN5 mutation
description Thirty-five patients (23 males and 12 females), age 35 ± 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the chloride channel gene CLCN5. The urinary ratio of beta2-microglobulin and creatinine (beta2M/Cr) was very high in a transplanted woman with nephrocalcinosis (>3.23 mg/mmol) and slightly high in five patients (>0.052 or < 1.0 mg/mmol) with multiple urological manipulations. Other studied patients showed beta2M/Cr ratio at normal range (0.003-0.052 mg/mmol) without gender difference (p > 0.05). Mutation analysis of CLCN5 gene was performed in 26 patients of 35 selected (11 with idiopathic hypercalciuria; 6 men with normal calciuria; 3 with mild renal insufficiency and 6 with nephrocalcinosis) and was normal in all subjects even in those with abnormal molecular weight proteinuria. Conclusion: CLCN5 gene mutation is not a common cause of kidney stone disease or nephrocalcinosis in a group of Brazilian patients studied.
publishDate 2005
dc.date.none.fl_str_mv 2005-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652005000100007
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652005000100007
dc.language.iso.fl_str_mv eng
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dc.relation.none.fl_str_mv 10.1590/S0001-37652005000100007
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dc.publisher.none.fl_str_mv Academia Brasileira de Ciências
publisher.none.fl_str_mv Academia Brasileira de Ciências
dc.source.none.fl_str_mv Anais da Academia Brasileira de Ciências v.77 n.1 2005
reponame:Anais da Academia Brasileira de Ciências (Online)
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