Lipid abnormalities in children with types A and B Niemann Pick disease
To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype. The study was a cross-sectional analysis of 10 patients with NPD type A and 30 pa...
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| Veröffentlicht in: | The Journal of pediatrics 2004-07, Vol.145 (1), p.77-81 |
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| container_title | The Journal of pediatrics |
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| creator | McGovern, Margaret M. Pohl-Worgall, Tilla Deckelbaum, Richard J. Simpson, William Mendelson, David Desnick, Robert J. Schuchman, Edward H. Wasserstein, Melissa P. |
| description | To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype.
The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained.
Lipid abnormalities included low (1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations.
Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease. |
| doi_str_mv | 10.1016/j.jpeds.2004.02.048 |
| format | Article |
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The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained.
Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations.
Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2004.02.048</identifier><identifier>PMID: 15238911</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Biological and medical sciences ; Calcium - analysis ; Child ; Child, Preschool ; Cholesterol, HDL - blood ; Cholesterol, LDL - blood ; Coronary Angiography ; Coronary Artery Disease - diagnostic imaging ; Coronary Vessels - chemistry ; Cross-Sectional Studies ; Errors of metabolism ; Female ; General aspects ; Genotype ; Humans ; Hypertriglyceridemia - blood ; Infant ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical sciences ; Metabolic diseases ; Mutation ; Niemann-Pick Diseases - blood ; Niemann-Pick Diseases - genetics ; Phenotype</subject><ispartof>The Journal of pediatrics, 2004-07, Vol.145 (1), p.77-81</ispartof><rights>2004 Elsevier Inc.</rights><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c385t-658f67f3609e17e2fb8c737285ad7eaabeb9f80a3c95c41f997c5d1b30488fe63</citedby><cites>FETCH-LOGICAL-c385t-658f67f3609e17e2fb8c737285ad7eaabeb9f80a3c95c41f997c5d1b30488fe63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jpeds.2004.02.048$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3549,27923,27924,45994</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15945701$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15238911$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>McGovern, Margaret M.</creatorcontrib><creatorcontrib>Pohl-Worgall, Tilla</creatorcontrib><creatorcontrib>Deckelbaum, Richard J.</creatorcontrib><creatorcontrib>Simpson, William</creatorcontrib><creatorcontrib>Mendelson, David</creatorcontrib><creatorcontrib>Desnick, Robert J.</creatorcontrib><creatorcontrib>Schuchman, Edward H.</creatorcontrib><creatorcontrib>Wasserstein, Melissa P.</creatorcontrib><title>Lipid abnormalities in children with types A and B Niemann Pick disease</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype.
The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained.
Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations.
Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.</description><subject>Biological and medical sciences</subject><subject>Calcium - analysis</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cholesterol, HDL - blood</subject><subject>Cholesterol, LDL - blood</subject><subject>Coronary Angiography</subject><subject>Coronary Artery Disease - diagnostic imaging</subject><subject>Coronary Vessels - chemistry</subject><subject>Cross-Sectional Studies</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>General aspects</subject><subject>Genotype</subject><subject>Humans</subject><subject>Hypertriglyceridemia - blood</subject><subject>Infant</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mutation</subject><subject>Niemann-Pick Diseases - blood</subject><subject>Niemann-Pick Diseases - genetics</subject><subject>Phenotype</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtuFDEQRS0EIkPgC5CQN2TXTdnu9mPBIkQhII1IFrC23HZZ8dAv7B5Q_p6ezEhhxaqk0rn1OIS8ZVAzYPLDrt7NGErNAZoaeA2NfkY2DIyqpBbiOdkAcF6JRskz8qqUHQCYBuAlOWMtF9owtiE32zSnQF03TnlwfVoSFppG6u9THzKO9E9a7unyMK_tS-rGQD_RbwkHN470LvmfNKSCruBr8iK6vuCbUz0nPz5ff7_6Um1vb75eXW4rL3S7VLLVUaooJBhkCnnstFdCcd26oNC5DjsTNTjhTesbFo1Rvg2sE-tzOqIU5-TiOHfO0689lsUOqXjsezfitC9WSql1K_gKiiPo81RKxmjnnAaXHywDe_Bnd_bRnz34s8DtumJNvTuN33cDhqfMSdgKvD8BrnjXx-xGn8o_nGlaBQfu45HDVcbvhNkWn3D0GFJGv9gwpf8e8hdGLo5B</recordid><startdate>20040701</startdate><enddate>20040701</enddate><creator>McGovern, Margaret M.</creator><creator>Pohl-Worgall, Tilla</creator><creator>Deckelbaum, Richard J.</creator><creator>Simpson, William</creator><creator>Mendelson, David</creator><creator>Desnick, Robert J.</creator><creator>Schuchman, Edward H.</creator><creator>Wasserstein, Melissa P.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>20040701</creationdate><title>Lipid abnormalities in children with types A and B Niemann Pick disease</title><author>McGovern, Margaret M. ; Pohl-Worgall, Tilla ; Deckelbaum, Richard J. ; Simpson, William ; Mendelson, David ; Desnick, Robert J. ; Schuchman, Edward H. ; Wasserstein, Melissa P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c385t-658f67f3609e17e2fb8c737285ad7eaabeb9f80a3c95c41f997c5d1b30488fe63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Biological and medical sciences</topic><topic>Calcium - analysis</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Cholesterol, HDL - blood</topic><topic>Cholesterol, LDL - blood</topic><topic>Coronary Angiography</topic><topic>Coronary Artery Disease - diagnostic imaging</topic><topic>Coronary Vessels - chemistry</topic><topic>Cross-Sectional Studies</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>General aspects</topic><topic>Genotype</topic><topic>Humans</topic><topic>Hypertriglyceridemia - blood</topic><topic>Infant</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mutation</topic><topic>Niemann-Pick Diseases - blood</topic><topic>Niemann-Pick Diseases - genetics</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>McGovern, Margaret M.</creatorcontrib><creatorcontrib>Pohl-Worgall, Tilla</creatorcontrib><creatorcontrib>Deckelbaum, Richard J.</creatorcontrib><creatorcontrib>Simpson, William</creatorcontrib><creatorcontrib>Mendelson, David</creatorcontrib><creatorcontrib>Desnick, Robert J.</creatorcontrib><creatorcontrib>Schuchman, Edward H.</creatorcontrib><creatorcontrib>Wasserstein, Melissa P.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>McGovern, Margaret M.</au><au>Pohl-Worgall, Tilla</au><au>Deckelbaum, Richard J.</au><au>Simpson, William</au><au>Mendelson, David</au><au>Desnick, Robert J.</au><au>Schuchman, Edward H.</au><au>Wasserstein, Melissa P.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lipid abnormalities in children with types A and B Niemann Pick disease</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2004-07-01</date><risdate>2004</risdate><volume>145</volume><issue>1</issue><spage>77</spage><epage>81</epage><pages>77-81</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>To characterize the lipid profiles in patients with types A and B Niemann Pick disease (NPD) and determine if lipid abnormalities are associated with evidence of early cardiovascular disease or correlate with genotype.
The study was a cross-sectional analysis of 10 patients with NPD type A and 30 patients with NPD type B that was carried out in the General Clinical Research Center. For each patient, fasting lipid profile and glucose, T4, height or length, weight, resting blood pressure, and acid sphingomyelinase deficiency genotype were measured. In type B patients, electrocardiograhic-gated helical computed tomography of the heart also was obtained.
Lipid abnormalities included low (<35 mg/dL) high-density lipoprotein cholesterol in 100% of patients and hypertriglyceridemia and increased low-density lipoprotein cholesterol in 62% (25/40) and 67% (27/40) of patients, respectively. Coronary artery calcium scores were positive (>1.0) in 10 of 18 type B patients studied. There was no correlation of the ΔR608 genotype with a milder phenotype for the lipid abnormalities, as has been observed for a number of other NPD manifestations.
Lipid abnormalities are part of the phenotype in types A and B NPD and may be associated with early atherosclerotic heart disease.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>15238911</pmid><doi>10.1016/j.jpeds.2004.02.048</doi><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences Calcium - analysis Child Child, Preschool Cholesterol, HDL - blood Cholesterol, LDL - blood Coronary Angiography Coronary Artery Disease - diagnostic imaging Coronary Vessels - chemistry Cross-Sectional Studies Errors of metabolism Female General aspects Genotype Humans Hypertriglyceridemia - blood Infant Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Mutation Niemann-Pick Diseases - blood Niemann-Pick Diseases - genetics Phenotype |
| title | Lipid abnormalities in children with types A and B Niemann Pick disease |
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