Clinical and pathological features of children with glycogen storage disease: An analysis of 10 cases
10.3969/j.issn.1001-5256.2022.08.022
- VernacularTitle:10例儿童肝糖原累积病临床及病理学分析
- Author:
Suxian ZHAO
1
;
Shiheng LIU
1
;
Wencong LI
1
;
Fang HAN
1
;
Shuhong LIU
2
;
Qingshan ZHANG
1
;
Weiguang REN
1
;
Lingbo KONG
1
;
Na FU
1
;
Rongqi WANG
1
;
Li KONG
1
;
Yuemin NAN
1
;
Jingmin ZHAO
2
Author Information
1. Hebei Key Laboratory of Mechanism of Liver Fibrosis in Chronic Liver Disease, Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, Shijiazhuang 050051, China
2. Department of Pathology, The Fifth Medical Center of Chinese PLA General Hospital, Beijing 100039, China
- Publication Type:Original Articles_Other Liver Diseases
- Keywords:
Glycogen Storage Disease;
Liver Diseases;
Pathological Conditions, Signs and Symptoms;
Child
- From:
Journal of Clinical Hepatology
2022;38(8):1839-1842
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and pathological features of children with glycogen storage disease (GSD). Methods A retrospective analysis was performed for ten children with GSD who were admitted to the Third Hospital of Hebei Medical University and The Fifth Medical Center of Chinese PLA General Hospital from January 2002 to January 2022, based on medical history, liver biochemistry, and liver biopsy, and population characteristics, clinical manifestations, biochemical parameters, and liver histopathological characteristics were compared and analyzed. Results All ten children had developmental retardation and a short stature, with the manifestations of abnormal liver function, mild weakness, poor appetite, yellow urine, and yellow eyes, and four children had hepatosplenomegaly. Among the ten children, six had the clinical manifestations of hypoglycemia, and one had bilateral gastrocnemius hypertrophy and positive Gower sign. Two children had positive CMV IgG. Liver histopathological manifestations included diffuse enlargement of hepatocytes, light cytoplasm, and small nucleus in the middle like plant cells, with or without fibrous tissue proliferation. Conclusion Most patients with GSD have developmental retardation and abnormal aminotransferases, and liver pathological examination shows specific pathological features.
