Xu Yiwen, Liu Yan, Yuan Yuheng, Hong Yuehui, Ma Mingsheng, Pan Jie, Wei Min, Qiu Zhengqing
Department of Pediatrics, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC), Beijing, 100730, China.
Department of Pediatrics, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.
Eur J Pediatr. 2025 Jun 30;184(7):458. doi: 10.1007/s00431-025-06180-y.
Hepatocellular adenoma (HCA) can occur in patients with glycogen storage disease type Ia (GSDIa), which is caused by mutations in the glucose-6-phosphatase gene (G6PC). Studies on HCA in GSDIa patients are limited and show variable results. Larger cohorts of GSDIa patients with HCA should be investigated. In this study, we examined the clinical characteristics and G6PC genotypes of 50 patients with HCA among 164 GSDIa cases. The incidence of HCA in GSDIa patients was 30.5% and increased with age. The mean age of HCA onset was 16.5 ± 4.4 years. The median age of GSDIa patients with HCA who received uncooked cornstarch treatment was significantly older than that of patients without HCA (14 years (11, 16.5) vs. 3 years (1, 9), p = 0.000). Median plasma triglyceride levels significantly decreased after treatment with uncooked cornstarch (5.36 mmol/L (3.44, 8.73) vs. 8.35 mmol/L (5.44, 13.27), p = 0.004). The most common G6PC genotype in GSDIa patients was [c.648G > T] + [c.648G > T]. The incidence of the G6PC [c.648G > T] + [c.248G > A] genotype was significantly lower in GSDIa patients with HCA compared to that in GSDIa patients without HCA (2.0% (1/49) vs. 14.7% (16/109), p = 0.018). Some HCAs with small diameters may temporarily disappear. Conclusion: Special attention should be paid to the occurrence of HCAs in GSDIa patients, particularly during adolescence. Earlier initiation of uncooked cornstarch treatment may reduce the incidence or delay the onset of HCAs by lowering triglyceride levels. Small and stable HCAs can be closely followed up since they may disappear temporarily.
肝细胞腺瘤（HCA）可发生于Ia型糖原贮积病（GSDIa）患者中，该病由葡萄糖-6-磷酸酶基因（G6PC）突变引起。关于GSDIa患者HCA的研究有限且结果各异。应调查更多患有HCA的GSDIa患者队列。在本研究中，我们检查了164例GSDIa病例中50例HCA患者的临床特征和G6PC基因型。GSDIa患者中HCA的发生率为30.5%，且随年龄增加。HCA发病的平均年龄为16.5±4.4岁。接受生玉米淀粉治疗的GSDIa-HCA患者的中位年龄显著高于未患HCA的患者（14岁（11，16.5）对3岁（1，9），p = 0.000）。生玉米淀粉治疗后，血浆甘油三酯水平中位数显著下降（5.36 mmol/L（3.44，8.73）对8.35 mmol/L（5.44，13.27），p = 0.004）。GSDIa患者中最常见的G6PC基因型是[c.648G>T]+[c.648G>T]。与未患HCA的GSDIa患者相比，GSDIa-HCA患者中G6PC [c.648G>T]+[c.248G>A]基因型的发生率显著更低（2.0%（1/49）对14.7%（16/109），p = 0.018）。一些小直径的HCA可能会暂时消失。结论：应特别关注GSDIa患者中HCA的发生，尤其是在青春期。更早开始生玉米淀粉治疗可能通过降低甘油三酯水平降低HCA的发生率或延迟其发病。小而稳定的HCA可密切随访，因为它们可能会暂时消失。
