Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib
Purpose: The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I. Methods: Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as...
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| Veröffentlicht in: | Genetics in medicine 2012-09, Vol.14 (9), p.795-799 |
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| creator | Wang, David Q. Carreras, Caroline T. Fiske, Laurie M. Austin, Stephanie Boree, Danielle Kishnani, Priya S. Weinstein, David A. |
| description | Purpose:
The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.
Methods:
Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin |
| doi_str_mv | 10.1038/gim.2012.41 |
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| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3808879</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2887711733</sourcerecordid><originalsourceid>FETCH-LOGICAL-c446t-71592f78edfe93006f643988913df35d043cc5848edb836a88fe9a43cb9c5be33</originalsourceid><addsrcrecordid>eNptkc1v1DAQxS0EoqVw4o4scUGCLGM7cZxLJbQqsFIlLsDVcpxJ1lUSL3YWafnrO8uW8iFOtub9_Dwzj7HnAlYClHk7hGklQchVKR6wc1EpKEBp_ZDu0JhCaYAz9iTnGwBRKwmP2ZmUujZgynP2db11yfkFU_jhlhBn7uaO79yyjQPOmEPmsacaTsHxMPNhPPijwvMSkxuQdyGjy8iXww75xv18vmmfske9GzM-uzsv2Jf3V5_XH4vrTx8263fXhS9LvRS1qBrZ1wa7HhsFoHtdqsaYRqiuV1UHpfK-MiUBrVHaGUOco2Lb-KpFpS7Y5cl3t28n7DzOS3Kj3aUwuXSw0QX7tzKHrR3id6tofFM3ZPDqziDFb3vMi51C9jiONHLcZytkTQuUQgOhL_9Bb-I-zTSeleRVC9rusaPXJ8qnmHPC_r4ZAfaYl6W87DEvWwqiX_zZ_z37KyAC3pyATNI8YPr96f_8bgFk9Z_R</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2887711733</pqid></control><display><type>article</type><title>Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>Alma/SFX Local Collection</source><creator>Wang, David Q. ; Carreras, Caroline T. ; Fiske, Laurie M. ; Austin, Stephanie ; Boree, Danielle ; Kishnani, Priya S. ; Weinstein, David A.</creator><creatorcontrib>Wang, David Q. ; Carreras, Caroline T. ; Fiske, Laurie M. ; Austin, Stephanie ; Boree, Danielle ; Kishnani, Priya S. ; Weinstein, David A.</creatorcontrib><description>Purpose:
The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.
Methods:
Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl.
Results:
In glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (
P
= 0.036).
Conclusion:
Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.
Genet Med
2012:14(9):795–799.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.2012.41</identifier><identifier>PMID: 22678084</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>692/699/1503/257 ; 692/699/1541/13 ; 692/699/317 ; Adenoma - blood ; Adenoma - complications ; Adenoma - pathology ; Adolescent ; Adult ; Anemia ; Anemia - blood ; Anemia - complications ; Anemia - pathology ; Biomedical and Life Sciences ; Biomedicine ; C-Reactive Protein - metabolism ; Child ; Child, Preschool ; Enterocolitis - blood ; Enterocolitis - complications ; Enterocolitis - pathology ; Female ; Glycogen Storage Disease Type I - blood ; Glycogen Storage Disease Type I - classification ; Glycogen Storage Disease Type I - complications ; Glycogen Storage Disease Type I - pathology ; Hemoglobin ; Hemoglobins - metabolism ; Human Genetics ; Humans ; Infant ; Iron - blood ; Iron Deficiencies ; Laboratory Medicine ; Liver Neoplasms - blood ; Liver Neoplasms - complications ; Liver Neoplasms - pathology ; Male ; Middle Aged ; original-research-article ; Severity of Illness Index ; Tumors</subject><ispartof>Genetics in medicine, 2012-09, Vol.14 (9), p.795-799</ispartof><rights>American College of Medical Genetics and Genomics 2012</rights><rights>American College of Medical Genetics and Genomics 2012.</rights><rights>American College of Medical Genetics and Genomics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c446t-71592f78edfe93006f643988913df35d043cc5848edb836a88fe9a43cb9c5be33</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22678084$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wang, David Q.</creatorcontrib><creatorcontrib>Carreras, Caroline T.</creatorcontrib><creatorcontrib>Fiske, Laurie M.</creatorcontrib><creatorcontrib>Austin, Stephanie</creatorcontrib><creatorcontrib>Boree, Danielle</creatorcontrib><creatorcontrib>Kishnani, Priya S.</creatorcontrib><creatorcontrib>Weinstein, David A.</creatorcontrib><title>Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose:
The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.
Methods:
Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl.
Results:
In glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (
P
= 0.036).
Conclusion:
Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.
Genet Med
2012:14(9):795–799.</description><subject>692/699/1503/257</subject><subject>692/699/1541/13</subject><subject>692/699/317</subject><subject>Adenoma - blood</subject><subject>Adenoma - complications</subject><subject>Adenoma - pathology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Anemia</subject><subject>Anemia - blood</subject><subject>Anemia - complications</subject><subject>Anemia - pathology</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>C-Reactive Protein - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Enterocolitis - blood</subject><subject>Enterocolitis - complications</subject><subject>Enterocolitis - pathology</subject><subject>Female</subject><subject>Glycogen Storage Disease Type I - blood</subject><subject>Glycogen Storage Disease Type I - classification</subject><subject>Glycogen Storage Disease Type I - complications</subject><subject>Glycogen Storage Disease Type I - pathology</subject><subject>Hemoglobin</subject><subject>Hemoglobins - metabolism</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Iron - blood</subject><subject>Iron Deficiencies</subject><subject>Laboratory Medicine</subject><subject>Liver Neoplasms - blood</subject><subject>Liver Neoplasms - complications</subject><subject>Liver Neoplasms - pathology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>original-research-article</subject><subject>Severity of Illness Index</subject><subject>Tumors</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkc1v1DAQxS0EoqVw4o4scUGCLGM7cZxLJbQqsFIlLsDVcpxJ1lUSL3YWafnrO8uW8iFOtub9_Dwzj7HnAlYClHk7hGklQchVKR6wc1EpKEBp_ZDu0JhCaYAz9iTnGwBRKwmP2ZmUujZgynP2db11yfkFU_jhlhBn7uaO79yyjQPOmEPmsacaTsHxMPNhPPijwvMSkxuQdyGjy8iXww75xv18vmmfske9GzM-uzsv2Jf3V5_XH4vrTx8263fXhS9LvRS1qBrZ1wa7HhsFoHtdqsaYRqiuV1UHpfK-MiUBrVHaGUOco2Lb-KpFpS7Y5cl3t28n7DzOS3Kj3aUwuXSw0QX7tzKHrR3id6tofFM3ZPDqziDFb3vMi51C9jiONHLcZytkTQuUQgOhL_9Bb-I-zTSeleRVC9rusaPXJ8qnmHPC_r4ZAfaYl6W87DEvWwqiX_zZ_z37KyAC3pyATNI8YPr96f_8bgFk9Z_R</recordid><startdate>20120901</startdate><enddate>20120901</enddate><creator>Wang, David Q.</creator><creator>Carreras, Caroline T.</creator><creator>Fiske, Laurie M.</creator><creator>Austin, Stephanie</creator><creator>Boree, Danielle</creator><creator>Kishnani, Priya S.</creator><creator>Weinstein, David A.</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</general><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>7X7</scope><scope>7XB</scope><scope>88E</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>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120901</creationdate><title>Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib</title><author>Wang, David Q. ; Carreras, Caroline T. ; Fiske, Laurie M. ; Austin, Stephanie ; Boree, Danielle ; Kishnani, Priya S. ; Weinstein, David A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c446t-71592f78edfe93006f643988913df35d043cc5848edb836a88fe9a43cb9c5be33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>692/699/1503/257</topic><topic>692/699/1541/13</topic><topic>692/699/317</topic><topic>Adenoma - blood</topic><topic>Adenoma - complications</topic><topic>Adenoma - pathology</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Anemia</topic><topic>Anemia - blood</topic><topic>Anemia - complications</topic><topic>Anemia - pathology</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>C-Reactive Protein - metabolism</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Enterocolitis - blood</topic><topic>Enterocolitis - complications</topic><topic>Enterocolitis - pathology</topic><topic>Female</topic><topic>Glycogen Storage Disease Type I - blood</topic><topic>Glycogen Storage Disease Type I - classification</topic><topic>Glycogen Storage Disease Type I - complications</topic><topic>Glycogen Storage Disease Type I - pathology</topic><topic>Hemoglobin</topic><topic>Hemoglobins - metabolism</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Iron - blood</topic><topic>Iron Deficiencies</topic><topic>Laboratory Medicine</topic><topic>Liver Neoplasms - blood</topic><topic>Liver Neoplasms - complications</topic><topic>Liver Neoplasms - pathology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>original-research-article</topic><topic>Severity of Illness Index</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wang, David Q.</creatorcontrib><creatorcontrib>Carreras, Caroline T.</creatorcontrib><creatorcontrib>Fiske, Laurie M.</creatorcontrib><creatorcontrib>Austin, Stephanie</creatorcontrib><creatorcontrib>Boree, Danielle</creatorcontrib><creatorcontrib>Kishnani, Priya S.</creatorcontrib><creatorcontrib>Weinstein, David A.</creatorcontrib><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>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</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>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wang, David Q.</au><au>Carreras, Caroline T.</au><au>Fiske, Laurie M.</au><au>Austin, Stephanie</au><au>Boree, Danielle</au><au>Kishnani, Priya S.</au><au>Weinstein, David A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2012-09-01</date><risdate>2012</risdate><volume>14</volume><issue>9</issue><spage>795</spage><epage>799</epage><pages>795-799</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose:
The aim of this study was to characterize the frequency and causes of anemia in glycogen storage disease type I.
Methods:
Hematologic data and iron studies were available from 202 subjects (163 with glycogen storage disease Ia and 39 with glycogen storage disease Ib). Anemia was defined as hemoglobin concentrations less than the 5th percentile for age and gender; severe anemia was defined as presence of a hemoglobin <10 g/dl.
Results:
In glycogen storage disease Ia, 68/163 patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults. Severe anemia was present in 8/163 patients, of whom 75% had hepatic adenomas. The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Anemia was present in 72% of patients with glycogen storage disease Ib, and severe anemia occurred in 16/39 patients. Anemia in patients with glycogen storage disease Ib was associated with exacerbations of glycogen storage disease enterocolitis, and there was a significant correlation between C-reactive protein and hemoglobin levels (
P
= 0.036).
Conclusion:
Anemia is a common manifestation of both glycogen storage disease Ia and Ib, although the pathophysiology appears to be different between these conditions. Those with severe anemia and glycogen storage disease Ia likely have hepatic adenomas, whereas glycogen storage disease enterocolitis should be considered in those with glycogen storage disease Ib.
Genet Med
2012:14(9):795–799.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>22678084</pmid><doi>10.1038/gim.2012.41</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | 692/699/1503/257 692/699/1541/13 692/699/317 Adenoma - blood Adenoma - complications Adenoma - pathology Adolescent Adult Anemia Anemia - blood Anemia - complications Anemia - pathology Biomedical and Life Sciences Biomedicine C-Reactive Protein - metabolism Child Child, Preschool Enterocolitis - blood Enterocolitis - complications Enterocolitis - pathology Female Glycogen Storage Disease Type I - blood Glycogen Storage Disease Type I - classification Glycogen Storage Disease Type I - complications Glycogen Storage Disease Type I - pathology Hemoglobin Hemoglobins - metabolism Human Genetics Humans Infant Iron - blood Iron Deficiencies Laboratory Medicine Liver Neoplasms - blood Liver Neoplasms - complications Liver Neoplasms - pathology Male Middle Aged original-research-article Severity of Illness Index Tumors |
| title | Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib |
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