ArticleClinical and experimental hepatology2020
Prevalence and clinical profile of glycogen storage diseases in children from Western India.
Article in Clinical and experimental hepatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 5 citations in OpenAlex.
- Hepatic Glycogenoses Among Children-Clinical and Biochemical Characterization: Single-Center Study.Journal of clinical and experimental hepatologyArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aim of the studyTo determine the prevalence and clinical profile of glycogen storage diseases (GSD) in children in western India. MATERIAL AND
methodsThis retrospective analysis was conducted over a period of 7 years from 2006 to 2012. All children diagnosed with GSD on liver biopsy were included in the study. Their clinical history, examination, biochemical profile and outcome were noted.
resultsOf 751 children, 18 (2.4%) were clinically diagnosed with GSD. Mean age at presentation was 2.3 ±1.3 years. Male : female ratio was 1 : 1. The main presenting features were abdominal distension in 15 (83.3%) patients, hepatomegaly in all 18 (100%), splenomegaly in 11 (61.1%) and jaundice in 2 (11.1%) patients. Four (22.2%) patients had delayed development. Four (22.2%) patients were siblings to an older affected child. Only 1 (5.6%) patient had portal hypertension and 2 (11.1%) had ascites. Only 1 (5.6%) patient had elevated bilirubin levels, 17 (94.4%) had elevated serum glutamic-oxaloacetic transaminase (SGOT) and all 18 (100%) patients had elevated serum glutamic-pyruvic transaminase (SGPT) levels. Nine (69.3%) patients of the 13 tested had acidosis, 1 (9.1%) had elevated uric acid, 2 (11.1%) had neutropenia, 8 (44.4%) experienced hypoglycemia, 4 (22.2%) patients had nephromegaly and only 1 patient showed evidence of cirrhosis in the liver biopsy. Fifteen (83.3%) patients were short. Three out of 6 patients tested had hypertriglyceridemia (50%). One (5.6%) patient died, 9 (50%) patients were lost to followup and the remaining 8 (44.4%) patients continued regular follow-up.
conclusionsMetabolic acidosis, hypertriglyceridemia, short stature, and hypoglycemia are major problems in children with GSD. Most of the patients are referred late at the time of presentation.
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