[Clinical analysis and follow-up outcomes of 25 pediatric cases with hepatic glycogen storage disease].

Abstract

Objective: To explore the clinical and genetic characteristics and follow-up status of pediatric patients with hepatic glycogen storage disease in order to further improve the prognosis. Methods: The clinical data of hospitalized children diagnosed with hepatic glycogen storage disease in the Department of Gastroenterology at the Children's Hospital of 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 number of cases that exceeded three (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 Ⅸa (n=8).The growth, development and prognosis of the children were followed up. The related clinical characteristics of pediatric hepatic glycogen storage disease were summarized. Results: Twenty-five pediatric patients with hepatic glycogen storage disease were enrolled in this study, with fifteen males and ten females. The mean age of diagnosis was (29.1±13.5) months. There were twelve cases (48%) accompanied with varying degrees of hypoglycemia, and two cases (8%) with severe hypoglycemia.There were nineteen cases with stature retardation (76%), four cases with anemia (16%), three cases with proteinuria (12%), and one case with cholestasis (4%).The genetic results showed that there were four cases of type Ⅰa (16%), four cases of type Ⅰb (16%), one case of type Ⅱ (4%), five cases of type Ⅲ (20%), two cases of type Ⅳ (8%), one case of type Ⅵ (4%), and eight cases of type Ⅸ (32%).The three subgroups analysis showed that there were significant statistical differences in uric acid and triglycerides among the three groups (P<0.05), while there were no statistical significant differences in transaminase levels, fasting blood glucose, lactate, cholesterol, and low-density lipoprotein levels (P>0.05). The height-for-age Z scores of the three groups were -2.86±1.62, -1.46±1.06, and -1.83±0.98, respectively. The growth and development of groups 2 and 3 were significantly improved compared with group 1 (P<0.05), with Z scores of -2.28±1.07, 0.20±1.54, and 0.10±1.44 after at least one year of follow-up. All pediatric patients with type Ⅸa had discontinued using raw corn starch after more than one year of follow-up and their transaminases had returned to normal. Four pediatric patients with type Ia were orally administered raw corn starch on a regular basis, and the aminotransferases, uric acid, and lactate were normal, with hypoglycemia being monitored. Among the four cases with type Ⅰb, one had recurrent respiratory tract and intestinal infections, two were combined with Crohn's disease, and one was monitored for hypoglycemia. In four cases of type Ⅲ, raw corn starch was discontinued, and a high-protein, low-carbohydrate diet was adopted, with the exception of the presence of high creatine kinase and normal aminotransferase. Liver failure resulted in the death of one type Ⅵ case, while two were type Ⅳ cases; one died, and one case recently had slightly elevated aminotransferase. Conclusion: When pediatric patients exhibit manifestations such as hepatomegaly, elevated transaminases, fasting hypoglycemia, and delayed growth and development, it is necessary to be alert to hepatic glycogen storage disease. Clinical manifestations and biochemical indicators combined with genetic testing are helpful for the diagnosis of hepatic glycogen storage disease. Simultaneously, targeted nutritional management should be carried out according to the metabolic characteristics of different subtypes, with attention on growth and development status.