Long-term Outcome of Glycogen Storage Disease Type 1; Analysis of Risk Factors for Hepatic Adenoma / 대한소아소화기영양학회지

ABSTRACT

PURPOSE: The aim of the study was to evaluate the long-term outcome of glycogen storage disease (GSD) type 1 with particular reference to hepatic adenoma and hepatocellular carcinoma, and to analyze risk factors affecting the development of hepatic adenoma in GSD type 1. METHODS: Forty-three GSD type 1 patients (31 males and 12 females, mean age 13.9+/-6.4 years) were analyzed retrospectively. Hepatic adenoma was detected on abdominal USG and diagnosed on histologic examination. Clinical profiles were compared between patients with hepatic adenoma (n=16) and age-matched controls without hepatic adenoma (n=16). RESULTS: 1) Of 43 GSD type 1 patients, 16 (37.2%) had hepatic adeoma. Hepatic adenoma was detected at the age of mean 14.2+/-4.1 years (range 7.9~25.7 years). Fourteen (87.5%) adenomas were multiple at detection. 2) Comparison of the clinical profiles between adenoma group and non-adenoma group revealed that age at first introduction of uncooked cornstarch treatment was significantly late in adenoma group compared with non-adenoma group (9.1+/-5.2 years vs. 3.0+/-1.8 years, p=0.003). Portocaval shunt surgery was performed in 11 (68.8%) patients in adenoma group and 3 (18.8%) in non-adenoma group (p=0.004). Hepatic adenoma developed mean 5.8+/-4.2 years after shunt operation. 3) One patient was diagnosed as hepatocellular carcinoma at the age of 25.7 years. CONCLUSION: Hepatic adenoma is an important late complication of GSD type 1 with the risk of malignant transformation. Early introduction of cornstarch therapy with strict metabolic control is needed to prevent the development of hepatic adenoma in GSD type 1.