关键词: 糖原累积病, 临床特征, 预后, 基因突变

Abstract: Objective　To summarize the clinical，laboratory examination and gene mutation characteristics and prognosis of glycogen storage disease type Ⅸa （GSD Ⅸa），and to strengthen the understanding of this type of disease. Methods　The clinical，laboratory examination，gene mutation and prognosis of 18 children with GSD Ⅸa who were genetically diagnosed at the Guangzhou Women and Childrens Medical Center from September 2016 to September 2020 were retrospectively analyzed. Results　The 18 children were all male，and the median age of onset was 1 year and 10 months. All children had hepatomegaly and elevated transaminase and there were 8 cases of short stature （44.44%），11 cases of hypoglycemia （61.11%），7 cases of hypertriglyceridemia （38.89%），6 cases of hypercholesterolemia （33.33%）and 12 cases of hyperlactic acidemia （66.67%）. A total of 17 mutations were detected，all of which were hemizygous mutations，and most were missense mutations；10 were unknown mutations not reported，of which 2 were novel mutations. Nine cases underwent liver biopsy，and the pathological results were consistent with typical GSD manifestations；4 cases （44.44%） were accompanied by focal fibrous hyperplasia in the portal area；6 cases （66.67%） had hepatocellular steatosis. Except for one untreated child，all the other children were given improved diet and oral raw corn starch，and their clinical and biochemical manifestations were improved. Conclusion　Hepatomegaly and elevated transaminases are highly correlated with GSD Ⅸa，and genetic testing can confirm the diagnosis and classification. Most of the disease has a good prognosis，but some may progress to liver fibrosis，and follow-up needs to be strengthened.

Key words: glycogen storage disease, clinical features, prognosis, gene mutation