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Liver histology in children with glycogen storage disorders type VI and IX.
Metadata
Journaldigestive and liver disease3.57Date
2020 Jun 03
4 months ago
Type
Journal Article
Volume
2020-Jun-03 / :
Author
Degrassi I 1, Deheragoda M 2, Creegen D 3, Mundy H 4, Mustafa A 5, Vara R 6, Hadzic N 7
Affiliation
  • 2. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: [email protected]
  • 3. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: [email protected]
  • 4. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: [email protected]
  • 5. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: [email protected]
  • 6. Metabolic Service, Evelina London Children's Hospital, Westminster Bridge Road, SE1 7EH, London UK. Electronic address: [email protected]
  • 7. Paediatric Service for Hepatology, Gastroenterology and Nutrition, King's College Hospital, Denmark Hill, SE5 9RS, London UK. Electronic address: [email protected]
Doi
PMIDMESH
Abstract
BACKGROUND: Glycogen storage diseases (GSD) type VI and IX are caused by liver phosphorylase system deficiencies and the two types are clinically indistinguishable.
AIM: As the role of liver biopsy is increasingly questioned, we aim to assess its current value in clinical practice.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
Keywords: Glycogenosis Hepatomegaly Liver biopsy Periportal copper binding protein
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3.6
Dig Liver Disdigestive and liver disease
Metadata
LocationNetherlands
FromELSEVIER SCIENCE INC

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