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.
目的： 探讨肝糖原累积症的临床特点、基因特点和随访情况，以期进一步改善肝糖原累积症患儿的预后。 方法： 收集2010年1月—2023年4月在首都儿科研究所附属儿童医院消化内科诊断为肝糖原累积症住院患儿的临床资料，作回顾性分析。分析患儿实验室检查及基因测序结果，根据基因结果将病例数（n）大于3例的进行分组：1组为Ⅰ型（n=8）、2组为Ⅲ型（n=5），3组为Ⅸ a型（n=8）。随访患儿生长发育及预后情况，总结儿童肝糖原累积症的相关临床特点。 结果： 纳入研究肝糖原累积症患儿25例，男性15例，女性10例，平均确诊年龄（29.1±13.5）月，伴不同程度的低血糖12例（48%，12/25），出现严重低血糖2例（8%，2/25）；合并身高发育迟缓19例（76%，19/25），贫血4例（16%，4/25），蛋白尿3例（12%，3/25），胆汁淤积1例（4%，1/25）。基因结果发现，Ⅰa型4例（16%，4/25），Ⅰb型4例（16%，4/25），Ⅱ型1例（4%，1/25），Ⅲ型5例（20%，5/25），Ⅳ型2例（8%，2/25），Ⅵ型1例（4%，1/25），Ⅸ a型8例（32%，8/25）。分析三组亚组，组间的尿酸、甘油三酯差异有统计学意义（P<0.05），而转氨酶水平、空腹血糖、乳酸、胆固醇、低密度脂蛋白水平差异不存在统计学意义（P>0.05）。比较三组的身高别年龄Z评分，分别为-2.86±1.62、-1.46±1.06、-1.83±0.98，随访至少1年，2组及3组生长发育情况明显较1组改善（P<0.05），Z评分为-2.28±1.07、0.20±1.54、0.10±1.44。随访1年以上，Ⅸ a型患儿均已停用生玉米淀粉，转氨酶均正常；4例Ⅰa型患儿目前规律口服生玉米淀粉，转氨酶、尿酸、乳酸正常，其中有监测到低血糖；4例Ⅰb型中1例有反复呼吸道、肠道感染，2例合并克罗恩病；4例Ⅲ型已停用生玉米淀粉，采取高蛋白、低碳水化合物饮食，除检测肌酸激酶偏高，转氨酶正常；1例Ⅵ型已因肝功能衰竭死亡；2例Ⅳ型，1例死亡，1例目前转氨酶稍高。 结论： 当发现患儿存在肝大、转氨酶升高、空腹低血糖、生长发育落后等表现时，需要警惕肝糖原累积症。临床表现、生物化学指标结合基因检测有助于肝糖原累积症的诊断，同时根据不同亚型的代谢特点，针对性进行营养管理，关注生长发育情况。.