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Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities

Hazrat Bilal1, Huma Arshad Cheema1, Zafar Fayyaz1

  • 1Department of Paediatric Gastroenterology & Hepatology, The Children's Hospital & The Institute of Child Health Lahore, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|September 20, 2019
PubMed

Insights

This study highlights common presentations and diagnostic methods for liver glycogen storage diseases (GSDs) in children. Early identification of GSDs is crucial to reduce severe health complications.

Area of Science:

  • Pediatric Gastroenterology
  • Metabolic Disorders
  • Hepatology

Background:

  • Liver glycogenosis, or glycogen storage diseases (GSDs), encompasses a group of inherited metabolic disorders affecting the liver.
  • Diagnosis often relies on clinical presentation and biochemical markers, with genetic analysis being a definitive but less accessible method.

Purpose of the Study:

  • To define the clinical spectrum of liver glycogenosis in children.
  • To identify diagnostic modalities useful for GSDs, excluding genetic testing.
  • To analyze the prevalence of different GSD types in a pediatric cohort.

Main Methods:

  • A prospective study enrolled 89 children under 18 with suspected hepatic GSD.
  • Data collected included demographic profiles and clinical observations over 18 months.
  • Statistical analysis was performed using SPSS version 22.

Main Results:

  • Type I GSD was most prevalent (79.7%), followed by Type III (14.6%).
  • Common presentations included abdominal distension, hepatomegaly, diarrhea, and failure to thrive.
  • Key biochemical findings were elevated triglycerides, transaminemia, hypercholesterolemia, and hyperuricemia.

Conclusions:

  • Hepatic GSDs present with significant clinical manifestations like hepatomegaly, short stature, and hyperlipidemia.
  • Prompt exclusion of GSDs in at-risk children is vital for mitigating disease mortality and morbidity.
  • Clinical and biochemical assessments are crucial for early GSD diagnosis.
Abstract

Keywords:
Children; PresentationGlycogen storage disease

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