Liver histology in children with glycogen storage disorders type VI and IX
Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable. As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice. We retrospectively reviewed childr...
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Veröffentlicht in: | Digestive and liver disease 2021-01, Vol.53 (1), p.86-93 |
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creator | Degrassi, Irene Deheragoda, Maesha Creegen, David Mundy, Helen Mustafa, Ahlam Vara, Roshni Hadzic, Nedim |
description | Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.
As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.
We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist.
Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated.
Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis. |
doi_str_mv | 10.1016/j.dld.2020.04.017 |
format | Article |
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As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.
We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist.
Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated.
Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis.</description><identifier>ISSN: 1590-8658</identifier><identifier>EISSN: 1878-3562</identifier><identifier>DOI: 10.1016/j.dld.2020.04.017</identifier><identifier>PMID: 32505569</identifier><language>eng</language><publisher>Netherlands: Elsevier Ltd</publisher><subject>Biopsy ; Child ; Child, Preschool ; Disease Progression ; Female ; Glycogen Storage Disease - diagnosis ; Glycogen Storage Disease - genetics ; Glycogen Storage Disease - pathology ; Glycogen Storage Disease Type VI - diagnosis ; Glycogen Storage Disease Type VI - genetics ; Glycogen Storage Disease Type VI - pathology ; Glycogenosis ; Hepatomegaly ; Hepatomegaly - etiology ; Humans ; Infant ; Liver biopsy ; Male ; Periportal copper binding protein ; Retrospective Studies</subject><ispartof>Digestive and liver disease, 2021-01, Vol.53 (1), p.86-93</ispartof><rights>2020 Editrice Gastroenterologica Italiana S.r.l.</rights><rights>Copyright © 2020 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c353t-903f34cdc0ad289f68e43c90ca57421b4fe14d679941e0a8adb2283be84e2da13</citedby><cites>FETCH-LOGICAL-c353t-903f34cdc0ad289f68e43c90ca57421b4fe14d679941e0a8adb2283be84e2da13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.dld.2020.04.017$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32505569$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Degrassi, Irene</creatorcontrib><creatorcontrib>Deheragoda, Maesha</creatorcontrib><creatorcontrib>Creegen, David</creatorcontrib><creatorcontrib>Mundy, Helen</creatorcontrib><creatorcontrib>Mustafa, Ahlam</creatorcontrib><creatorcontrib>Vara, Roshni</creatorcontrib><creatorcontrib>Hadzic, Nedim</creatorcontrib><title>Liver histology in children with glycogen storage disorders type VI and IX</title><title>Digestive and liver disease</title><addtitle>Dig Liver Dis</addtitle><description>Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.
As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.
We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist.
Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated.
Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis.</description><subject>Biopsy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Disease Progression</subject><subject>Female</subject><subject>Glycogen Storage Disease - diagnosis</subject><subject>Glycogen Storage Disease - genetics</subject><subject>Glycogen Storage Disease - pathology</subject><subject>Glycogen Storage Disease Type VI - diagnosis</subject><subject>Glycogen Storage Disease Type VI - genetics</subject><subject>Glycogen Storage Disease Type VI - pathology</subject><subject>Glycogenosis</subject><subject>Hepatomegaly</subject><subject>Hepatomegaly - etiology</subject><subject>Humans</subject><subject>Infant</subject><subject>Liver biopsy</subject><subject>Male</subject><subject>Periportal copper binding protein</subject><subject>Retrospective Studies</subject><issn>1590-8658</issn><issn>1878-3562</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1rGzEQhkVJqR2nP6CXoGMvux197WrJqYQ0cTH00obchCzN2jLrXVdau_jfR8ZOjznNDDzvC_MQ8oVByYBV3zal73zJgUMJsgRWfyBTpmtdCFXxq7yrBgpdKT0h1yltADirFHwiE8EVKFU1U_JzEQ4Y6TqkceiG1ZGGnrp16HzEnv4L45quuqMbVvnKRLQrpD6kIXqMiY7HHdLnObW9p_OXG_KxtV3Cz5c5I39-PPy-fyoWvx7n998XhRNKjEUDohXSeQfWc920lUYpXAPOqlpytpQtMumrumkkQ7Da-iXnWixRS-TeMjEjX8-9uzj83WMazTYkh11nexz2yXDJoGay0k1G2Rl1cUgpYmt2MWxtPBoG5qTQbExWaE4KDUiTFebM7aV-v9yi_594c5aBuzOA-clDwGiSC9g79CGiG40fwjv1r-VygOk</recordid><startdate>202101</startdate><enddate>202101</enddate><creator>Degrassi, Irene</creator><creator>Deheragoda, Maesha</creator><creator>Creegen, David</creator><creator>Mundy, Helen</creator><creator>Mustafa, Ahlam</creator><creator>Vara, Roshni</creator><creator>Hadzic, Nedim</creator><general>Elsevier Ltd</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>7X8</scope></search><sort><creationdate>202101</creationdate><title>Liver histology in children with glycogen storage disorders type VI and IX</title><author>Degrassi, Irene ; Deheragoda, Maesha ; Creegen, David ; Mundy, Helen ; Mustafa, Ahlam ; Vara, Roshni ; Hadzic, Nedim</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c353t-903f34cdc0ad289f68e43c90ca57421b4fe14d679941e0a8adb2283be84e2da13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Biopsy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Disease Progression</topic><topic>Female</topic><topic>Glycogen Storage Disease - diagnosis</topic><topic>Glycogen Storage Disease - genetics</topic><topic>Glycogen Storage Disease - pathology</topic><topic>Glycogen Storage Disease Type VI - diagnosis</topic><topic>Glycogen Storage Disease Type VI - genetics</topic><topic>Glycogen Storage Disease Type VI - pathology</topic><topic>Glycogenosis</topic><topic>Hepatomegaly</topic><topic>Hepatomegaly - etiology</topic><topic>Humans</topic><topic>Infant</topic><topic>Liver biopsy</topic><topic>Male</topic><topic>Periportal copper binding protein</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Degrassi, Irene</creatorcontrib><creatorcontrib>Deheragoda, Maesha</creatorcontrib><creatorcontrib>Creegen, David</creatorcontrib><creatorcontrib>Mundy, Helen</creatorcontrib><creatorcontrib>Mustafa, Ahlam</creatorcontrib><creatorcontrib>Vara, Roshni</creatorcontrib><creatorcontrib>Hadzic, Nedim</creatorcontrib><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>Digestive and liver disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Degrassi, Irene</au><au>Deheragoda, Maesha</au><au>Creegen, David</au><au>Mundy, Helen</au><au>Mustafa, Ahlam</au><au>Vara, Roshni</au><au>Hadzic, Nedim</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Liver histology in children with glycogen storage disorders type VI and IX</atitle><jtitle>Digestive and liver disease</jtitle><addtitle>Dig Liver Dis</addtitle><date>2021-01</date><risdate>2021</risdate><volume>53</volume><issue>1</issue><spage>86</spage><epage>93</epage><pages>86-93</pages><issn>1590-8658</issn><eissn>1878-3562</eissn><abstract>Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.
As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.
We retrospectively reviewed children with diagnosis of GSD VI and IX at a paediatric liver centre between 2001 and 2018. Clinical features, molecular analysis and imaging were reviewed. Liver histology was reassessed by a single histopatologist.
Twenty-two cases were identified (9 type VI, 9 IXa, 1 IXb and 3 IXc). Features at presentation were hepatomegaly (95%), deranged AST (81%), short stature (50%) and failure to thrive (4%). Liver biopsy was performed in 19 patients. Fibrosis varied in GSD IXa with METAVIR score between F1-F3 and ISHAK score of F2-F5. METAVIR score was F2-F3 in GSD VI and F3-F4 in GSD IXc. Hepatocyte glycogenation, mild steatosis, lobular inflammatory activity and periportal copper binding protein staining were also demonstrated.
Although GSD VI and IX are considered clinically mild, chronic histological changes of varying severity could be seen in all liver biopsies. Histopathological assessment of the liver involvement is superior to biochemical parameters, but definitive classification requires a mutational analysis.</abstract><cop>Netherlands</cop><pub>Elsevier Ltd</pub><pmid>32505569</pmid><doi>10.1016/j.dld.2020.04.017</doi><tpages>8</tpages></addata></record> |
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subjects | Biopsy Child Child, Preschool Disease Progression Female Glycogen Storage Disease - diagnosis Glycogen Storage Disease - genetics Glycogen Storage Disease - pathology Glycogen Storage Disease Type VI - diagnosis Glycogen Storage Disease Type VI - genetics Glycogen Storage Disease Type VI - pathology Glycogenosis Hepatomegaly Hepatomegaly - etiology Humans Infant Liver biopsy Male Periportal copper binding protein Retrospective Studies |
title | Liver histology in children with glycogen storage disorders type VI and IX |
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