[Clinical analysis and follow-up results of 25 children with glycogen storage disease].

Abstract

Objective: To investigate the clinical characteristics, genetic characteristics and follow-up of hepatic glycogen accumulation in order to further improve the prognosis of children with hepatic glycogen accumulation. Methods: Clinical data of hospitalized children diagnosed with hepatic glycogen accumulation disease in the Department of gastroenterology, Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2010 to April 2023 were collected and retrospectively analyzed. The results of laboratory examination and gene sequencing were analyzed, and the patients with more than 3 cases (n) were grouped according to the genetic results: Group 1 was type Ⅰ (n=8), group 2 was type Ⅲ (n=5), and group 3 was type Ⅸ a (n=8). The growth, development and prognosis of the children were followed up, and the related clinical characteristics of pediatric hepatic glycogen accumulation were summarized. Results: A total of 25 children with hepatic accumulation of glycogen were included in the study, including 15 males and 10 females. The mean age of diagnosis was (29.1±13.5) months. There were 12 cases (48%) with varying degrees of hypoglycemia, and 2 cases (8%) with severe hypoglycemia. There were 19 cases with height retardation (76%), 4 cases with anemia (16%), 3 cases with proteinuria (12%), and 1 case with cholestasis (4%). The genetic results showed that there were 4 cases of type Ⅰ a (16%), 4 cases of type Ⅰ b (16%), 1 case of type Ⅱ (4%), 5 cases of type Ⅲ (20%), 2 cases of type Ⅳ (8%), 1 case of type Ⅵ (4%), and 8 cases of type Ⅸ (32%). By analyzing the three subgroups, there were statistically significant differences in uric acid and triglyceride (P<0.05), while there were no statistically significant differences in aminotransferase levels, fasting blood glucose, lactic acid, cholesterol and low density lipoprotein levels (P>0.05). The height-specific age Z scores of the three groups were compared, which were -2.86±1.62, -1.46±1.06 and -1.83±0.98, respectively. After at least 1 year of follow-up, the growth and development of groups 2 and 3 were significantly improved compared with group 1 (P<0.05), and the Z scores were -2.28±1.07, 0.20±1.54 and 0.10±1.44. After more than 1 year of follow-up, all the children with type IX had stopped using raw corn starch and had normal transaminase. 4 patients with type Ia were taking raw corn starch orally regularly. Aminotransferase, uric acid and lactic acid were normal, and hypoglycemia was detected among them.Among the 4 cases of type Ⅰb, 1 case had recurrent respiratory and intestinal infections, and 2 cases had Crohn's disease.4 cases of type Ⅲ had stopped using raw corn starch and adopted high protein and low carbohydrate diet. The aminotransferase was normal except for high creatine kinase. One case of type Ⅵ died of liver failure.2 cases were type Ⅳ, 1 died and 1 had a slightly elevated transaminase level. Conclusion: When it is found that the children have liver enlargement, elevated aminotransferase, fasting hypoglycemia, and backward growth and development, it is necessary to be vigilant about liver glycogen accumulation.Clinical manifestations, biochemical indicators combined with genetic examination are helpful for the diagnosis of hepatic glycogen accumulation. Meanwhile, nutritional management is targeted according to the metabolic characteristics of different subtypes, and attention is paid to growth and development.