Renal vascular sclerosis is associated with inherited thrombophilias
Vascular sclerosis is often seen in renal biopsies. It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation ar...
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| Veröffentlicht in: | Kidney international 2006-08, Vol.70 (4), p.743-750 |
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| description | Vascular sclerosis is often seen in renal biopsies. It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with the vascular sclerosis is not known. Renal biopsies that showed vascular disease were grouped into five groups: (1) diabetic patients, (2) hypertensive patients, (3) diabetic and hypertensive patients, (4) smokers, and (5) vascular sclerosis of unknown etiology (idiopathic renal disease). Renal biopsies with no vascular sclerosis were used as controls. Frozen tissue was analyzed for factor V Leiden mutation, prothrombin G20210A mutation, and MTHFR C677T. Factor V Leiden mutation and prothrombin G20210A mutation was not seen in patients with diabetes, hypertension, or smoking, whereas MTHFR C677T polymorphism in these groups was not significant, compared to the controls. In the idiopathic renal disease group, three of the 17 patients (17.6%) had prothrombin G20210A mutation, two of the 17 patients (11.8%) had the factor V Leiden mutation, and five of the 17 (29.4%) were homozygous for the MTHFR C677T polymorphism. When the data were evaluated as a whole, 10 mutations were found in 17 patients (P |
| doi_str_mv | 10.1038/sj.ki.5001551 |
| format | Article |
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It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with the vascular sclerosis is not known. Renal biopsies that showed vascular disease were grouped into five groups: (1) diabetic patients, (2) hypertensive patients, (3) diabetic and hypertensive patients, (4) smokers, and (5) vascular sclerosis of unknown etiology (idiopathic renal disease). Renal biopsies with no vascular sclerosis were used as controls. Frozen tissue was analyzed for factor V Leiden mutation, prothrombin G20210A mutation, and MTHFR C677T. Factor V Leiden mutation and prothrombin G20210A mutation was not seen in patients with diabetes, hypertension, or smoking, whereas MTHFR C677T polymorphism in these groups was not significant, compared to the controls. In the idiopathic renal disease group, three of the 17 patients (17.6%) had prothrombin G20210A mutation, two of the 17 patients (11.8%) had the factor V Leiden mutation, and five of the 17 (29.4%) were homozygous for the MTHFR C677T polymorphism. When the data were evaluated as a whole, 10 mutations were found in 17 patients (P<0.0005 compared to controls) or eight of the 17 patients (47%) were observed to have at least one of the three forms of inherited thrombophilia (P<0.001 compared to controls). These findings indicate that renal vascular lesions, in the absence of diabetes, hypertension, or smoking appears to be associated with inherited thrombophilias.</description><identifier>ISSN: 0085-2538</identifier><identifier>EISSN: 1523-1755</identifier><identifier>DOI: 10.1038/sj.ki.5001551</identifier><identifier>PMID: 16760910</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adult ; Aged ; Biopsy ; Diabetes Mellitus - genetics ; Diabetes Mellitus - metabolism ; Factor V - genetics ; Factor V - metabolism ; factor V Leiden ; Female ; Gene Expression Regulation ; Humans ; Hypertension - complications ; Hypertension - genetics ; Hypertension - metabolism ; Kidney - blood supply ; Kidney - metabolism ; Kidney - pathology ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) - genetics ; Methylenetetrahydrofolate Reductase (NADPH2) - metabolism ; methylenetetrahydrofolate reductase gene ; Middle Aged ; Mutation ; Nephrosclerosis - etiology ; Nephrosclerosis - genetics ; Nephrosclerosis - metabolism ; Plasminogen Activator Inhibitor 1 - genetics ; Plasminogen Activator Inhibitor 1 - metabolism ; Prothrombin - genetics ; Prothrombin - metabolism ; prothrombin gene ; Renal Artery - metabolism ; Renal Artery - pathology ; Risk Factors ; Sclerosis - etiology ; Sclerosis - genetics ; Sclerosis - metabolism ; Smoking - adverse effects ; thrombophilia ; Thrombophilia - complications ; Thrombophilia - genetics ; Thrombophilia - metabolism ; vascular sclerosis</subject><ispartof>Kidney international, 2006-08, Vol.70 (4), p.743-750</ispartof><rights>2006 International Society of Nephrology</rights><rights>Copyright Nature Publishing Group Aug 2006</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-9d24276d0ffead35c995dd0e57d52e64722bc67435de489cd28eacbce922d43</citedby><cites>FETCH-LOGICAL-c405t-9d24276d0ffead35c995dd0e57d52e64722bc67435de489cd28eacbce922d43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16760910$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Goforth, R.L.</creatorcontrib><creatorcontrib>Rennke, H.</creatorcontrib><creatorcontrib>Sethi, S.</creatorcontrib><title>Renal vascular sclerosis is associated with inherited thrombophilias</title><title>Kidney international</title><addtitle>Kidney Int</addtitle><description>Vascular sclerosis is often seen in renal biopsies. It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with the vascular sclerosis is not known. Renal biopsies that showed vascular disease were grouped into five groups: (1) diabetic patients, (2) hypertensive patients, (3) diabetic and hypertensive patients, (4) smokers, and (5) vascular sclerosis of unknown etiology (idiopathic renal disease). Renal biopsies with no vascular sclerosis were used as controls. Frozen tissue was analyzed for factor V Leiden mutation, prothrombin G20210A mutation, and MTHFR C677T. Factor V Leiden mutation and prothrombin G20210A mutation was not seen in patients with diabetes, hypertension, or smoking, whereas MTHFR C677T polymorphism in these groups was not significant, compared to the controls. In the idiopathic renal disease group, three of the 17 patients (17.6%) had prothrombin G20210A mutation, two of the 17 patients (11.8%) had the factor V Leiden mutation, and five of the 17 (29.4%) were homozygous for the MTHFR C677T polymorphism. When the data were evaluated as a whole, 10 mutations were found in 17 patients (P<0.0005 compared to controls) or eight of the 17 patients (47%) were observed to have at least one of the three forms of inherited thrombophilia (P<0.001 compared to controls). These findings indicate that renal vascular lesions, in the absence of diabetes, hypertension, or smoking appears to be associated with inherited thrombophilias.</description><subject>Adult</subject><subject>Aged</subject><subject>Biopsy</subject><subject>Diabetes Mellitus - genetics</subject><subject>Diabetes Mellitus - metabolism</subject><subject>Factor V - genetics</subject><subject>Factor V - metabolism</subject><subject>factor V Leiden</subject><subject>Female</subject><subject>Gene Expression Regulation</subject><subject>Humans</subject><subject>Hypertension - complications</subject><subject>Hypertension - genetics</subject><subject>Hypertension - metabolism</subject><subject>Kidney - blood supply</subject><subject>Kidney - metabolism</subject><subject>Kidney - pathology</subject><subject>Male</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - metabolism</subject><subject>methylenetetrahydrofolate reductase gene</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Nephrosclerosis - etiology</subject><subject>Nephrosclerosis - genetics</subject><subject>Nephrosclerosis - metabolism</subject><subject>Plasminogen Activator Inhibitor 1 - genetics</subject><subject>Plasminogen Activator Inhibitor 1 - metabolism</subject><subject>Prothrombin - genetics</subject><subject>Prothrombin - metabolism</subject><subject>prothrombin gene</subject><subject>Renal Artery - metabolism</subject><subject>Renal Artery - pathology</subject><subject>Risk Factors</subject><subject>Sclerosis - etiology</subject><subject>Sclerosis - genetics</subject><subject>Sclerosis - metabolism</subject><subject>Smoking - adverse effects</subject><subject>thrombophilia</subject><subject>Thrombophilia - complications</subject><subject>Thrombophilia - genetics</subject><subject>Thrombophilia - metabolism</subject><subject>vascular sclerosis</subject><issn>0085-2538</issn><issn>1523-1755</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kEtLw0AUhQdRbK0u3Upw4S51Hpk8llKfUBDU_TCZuSHTpkmdm1T8905pQBCEC5cDHwfOR8glo3NGRX6Lq_nazSWlTEp2RKZMchGzTMpjMqU0lzGXIp-QM8QVDbkQ9JRMWJqltGB0Su7foNVNtNNohkb7CE0DvkOHUTiN2Bmne7DRl-vryLU1eLePfe27Tdlta9c4jefkpNINwsX4Z-T98eFj8RwvX59eFnfL2CRU9nFhecKz1NKqAm2FNEUhraUgMys5pEnGeWnSLBHSQpIXxvIctCkNFJzbRMzIzaF167vPAbBXG4cGmka30A2o0jwTvEhkAK__gKtu8GEmKs4o44mgaYDiA2TCXPRQqa13G-2_FaNqb1bhSq2dGs0G_mosHcoN2F96VBmA7ABAMLBz4BUaB60B6zyYXtnO_VP9A-RWh-U</recordid><startdate>20060801</startdate><enddate>20060801</enddate><creator>Goforth, R.L.</creator><creator>Rennke, H.</creator><creator>Sethi, S.</creator><general>Elsevier Inc</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20060801</creationdate><title>Renal vascular sclerosis is associated with inherited thrombophilias</title><author>Goforth, R.L. ; Rennke, H. ; Sethi, S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-9d24276d0ffead35c995dd0e57d52e64722bc67435de489cd28eacbce922d43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Biopsy</topic><topic>Diabetes Mellitus - genetics</topic><topic>Diabetes Mellitus - metabolism</topic><topic>Factor V - genetics</topic><topic>Factor V - metabolism</topic><topic>factor V Leiden</topic><topic>Female</topic><topic>Gene Expression Regulation</topic><topic>Humans</topic><topic>Hypertension - complications</topic><topic>Hypertension - genetics</topic><topic>Hypertension - metabolism</topic><topic>Kidney - blood supply</topic><topic>Kidney - metabolism</topic><topic>Kidney - pathology</topic><topic>Male</topic><topic>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</topic><topic>Methylenetetrahydrofolate Reductase (NADPH2) - metabolism</topic><topic>methylenetetrahydrofolate reductase gene</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Nephrosclerosis - etiology</topic><topic>Nephrosclerosis - genetics</topic><topic>Nephrosclerosis - metabolism</topic><topic>Plasminogen Activator Inhibitor 1 - genetics</topic><topic>Plasminogen Activator Inhibitor 1 - metabolism</topic><topic>Prothrombin - genetics</topic><topic>Prothrombin - metabolism</topic><topic>prothrombin gene</topic><topic>Renal Artery - metabolism</topic><topic>Renal Artery - pathology</topic><topic>Risk Factors</topic><topic>Sclerosis - etiology</topic><topic>Sclerosis - genetics</topic><topic>Sclerosis - metabolism</topic><topic>Smoking - adverse effects</topic><topic>thrombophilia</topic><topic>Thrombophilia - complications</topic><topic>Thrombophilia - genetics</topic><topic>Thrombophilia - metabolism</topic><topic>vascular sclerosis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Goforth, R.L.</creatorcontrib><creatorcontrib>Rennke, H.</creatorcontrib><creatorcontrib>Sethi, S.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Kidney international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Goforth, R.L.</au><au>Rennke, H.</au><au>Sethi, S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Renal vascular sclerosis is associated with inherited thrombophilias</atitle><jtitle>Kidney international</jtitle><addtitle>Kidney Int</addtitle><date>2006-08-01</date><risdate>2006</risdate><volume>70</volume><issue>4</issue><spage>743</spage><epage>750</epage><pages>743-750</pages><issn>0085-2538</issn><eissn>1523-1755</eissn><abstract>Vascular sclerosis is often seen in renal biopsies. It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with the vascular sclerosis is not known. Renal biopsies that showed vascular disease were grouped into five groups: (1) diabetic patients, (2) hypertensive patients, (3) diabetic and hypertensive patients, (4) smokers, and (5) vascular sclerosis of unknown etiology (idiopathic renal disease). Renal biopsies with no vascular sclerosis were used as controls. Frozen tissue was analyzed for factor V Leiden mutation, prothrombin G20210A mutation, and MTHFR C677T. Factor V Leiden mutation and prothrombin G20210A mutation was not seen in patients with diabetes, hypertension, or smoking, whereas MTHFR C677T polymorphism in these groups was not significant, compared to the controls. In the idiopathic renal disease group, three of the 17 patients (17.6%) had prothrombin G20210A mutation, two of the 17 patients (11.8%) had the factor V Leiden mutation, and five of the 17 (29.4%) were homozygous for the MTHFR C677T polymorphism. When the data were evaluated as a whole, 10 mutations were found in 17 patients (P<0.0005 compared to controls) or eight of the 17 patients (47%) were observed to have at least one of the three forms of inherited thrombophilia (P<0.001 compared to controls). These findings indicate that renal vascular lesions, in the absence of diabetes, hypertension, or smoking appears to be associated with inherited thrombophilias.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>16760910</pmid><doi>10.1038/sj.ki.5001551</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Biopsy Diabetes Mellitus - genetics Diabetes Mellitus - metabolism Factor V - genetics Factor V - metabolism factor V Leiden Female Gene Expression Regulation Humans Hypertension - complications Hypertension - genetics Hypertension - metabolism Kidney - blood supply Kidney - metabolism Kidney - pathology Male Methylenetetrahydrofolate Reductase (NADPH2) - genetics Methylenetetrahydrofolate Reductase (NADPH2) - metabolism methylenetetrahydrofolate reductase gene Middle Aged Mutation Nephrosclerosis - etiology Nephrosclerosis - genetics Nephrosclerosis - metabolism Plasminogen Activator Inhibitor 1 - genetics Plasminogen Activator Inhibitor 1 - metabolism Prothrombin - genetics Prothrombin - metabolism prothrombin gene Renal Artery - metabolism Renal Artery - pathology Risk Factors Sclerosis - etiology Sclerosis - genetics Sclerosis - metabolism Smoking - adverse effects thrombophilia Thrombophilia - complications Thrombophilia - genetics Thrombophilia - metabolism vascular sclerosis |
| title | Renal vascular sclerosis is associated with inherited thrombophilias |
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