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ORIGINAL ARTICLE
Year : 2019  |  Volume : 32  |  Issue : 3  |  Page : 136-144

A cross-sectional study of complications in children with glycogen storage disease: a single-center study


1 Resident at Mansoura University Children’s Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt
2 Department of Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt
3 Department of Pediatrics, Unit of Genetics, Faculty of Medicine, Mansoura University, Mansoura, Egypt
4 Department of Pediatrics, Pediatric Gastroenterology and Hepatology Unit, Mansoura University Children’s Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt

Correspondence Address:
PhD Khadiga M Ali
Department of Pathology, Faculty of Medicine, Mansoura University, Elgomhoria Street, Mansoura, Eldakahliya 35516
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJOP.AJOP_14_19

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Background Glycogen storage diseases (GSDs) are a heterogeneous group of metabolic disorders that result from the deficiency of particular enzymes implicated in glycogen metabolism. Identification of the exact diagnosis is essential, as there are different treatments, complications, and natural histories for the various kinds of this disorder. However, with the lack of molecular and enzymatic assay owing to unaffordable cost, we aimed to investigate children diagnosed with GSD for detection of disease-related complications. Patients and methods This cross-sectional observational study included 43 children diagnosed as having GSD based on liver biopsy, with emphasis on the possible associated complications despite the lack of molecular subtyping. Patients were selected from the outpatient clinic of Hepatology Unit of Mansoura University Children’s Hospital during the period from February 2016 to December 2018. Results A total of 27 (62.8%) patients were males. Their age ranged from 1 to 18 years and median value was 7 years. Positive consanguinity was present in 26 (60.5%) cases. Overall, 46% showed delayed puberty. Thirty-five children developed complications in the form of type I diabetes mellitus in one (2.3%), chronic kidney disease in two (4.7%), osteopenia in 24 (68.5%), delayed motor development in 21 (49%), and cardiomyopathy in five (11.6%). Conclusion Development of complications in pediatric patient with GSD can occur even with the strict diet control. Anticipation of complications and regular checkup of their occurrence is mandatory to prevent their progression and allow prompt management.


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