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
Hauptverfasser: Degrassi, Irene, Deheragoda, Maesha, Creegen, David, Mundy, Helen, Mustafa, Ahlam, Vara, Roshni, Hadzic, Nedim
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container_issue 1
container_start_page 86
container_title Digestive and liver disease
container_volume 53
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
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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. 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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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