Screening for CLCN5 mutation in renal calcium stone formers patients
Autor(a) principal: | |
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Data de Publicação: | 2005 |
Outros Autores: | , , , , , |
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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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 |
format |
article |
status_str |
publishedVersion |
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 |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0001-37652005000100007 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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) instname:Academia Brasileira de Ciências (ABC) instacron:ABC |
instname_str |
Academia Brasileira de Ciências (ABC) |
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ABC |
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ABC |
reponame_str |
Anais da Academia Brasileira de Ciências (Online) |
collection |
Anais da Academia Brasileira de Ciências (Online) |
repository.name.fl_str_mv |
Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC) |
repository.mail.fl_str_mv |
||aabc@abc.org.br |
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1754302856192589824 |