Miyaishi Masanori, Fukushima Kenji, Kuranobu Naomi, Murakami Jun, Namba Noriyuki
Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Tottori, JPN.
Cureus. 2025 Feb 2;17(2):e78396. doi: 10.7759/cureus.78396. eCollection 2025 Feb.
A previously healthy 18-month-old boy presented with hepatomegaly, accompanied by liver injury. Imaging and liver biopsy findings suggested a hepatic glycogen storage disease (GSD) but not GSD type I. Genetic testing revealed a partial deletion of the PHKA2 gene, confirming the diagnosis of GSD type IXa. Initial treatment included ursodeoxycholic acid and portioned meals. However, the boy's liver injury continued to worsen. Subsequently, nightly oral cornstarch after meals and oral glycyrrhizin were introduced. Following the addition of cornstarch and glycyrrhizin, the patient's liver injury significantly improved. Liver injury caused by GSD is likely due to excessive glycogen accumulation in the hepatocytes. However, the detailed mechanism is unclear, particularly the minimal inflammatory cell infiltration observed in this case. While GSD IX has a good prognosis and resolves spontaneously, some patients develop hepatic fibrosis and adenomas. Cornstarch supplementation is a mainstay treatment for GSD to prevent hypoglycemia. It may also contribute to improved liver function by moderating glycogen buildup. The glycyrrhizin has also shown potential in reducing mitochondrial damage via another mechanism in this case, but additional research is warranted.
一名此前健康的18个月大男孩出现肝肿大，并伴有肝损伤。影像学和肝活检结果提示为肝糖原贮积病（GSD），但非I型GSD。基因检测显示PHKA2基因部分缺失，确诊为IXa型GSD。初始治疗包括熊去氧胆酸和分餐。然而，该男孩的肝损伤持续恶化。随后，开始在餐后每晚口服玉米淀粉和口服甘草酸。添加玉米淀粉和甘草酸后，患者的肝损伤明显改善。GSD所致肝损伤可能是由于肝细胞中糖原过度蓄积。然而，具体机制尚不清楚，尤其是本病例中观察到的炎症细胞浸润极少。虽然IX型GSD预后良好且可自发缓解，但一些患者会发展为肝纤维化和腺瘤。补充玉米淀粉是GSD预防低血糖的主要治疗方法。它还可能通过减轻糖原堆积有助于改善肝功能。在本病例中，甘草酸还通过另一种机制显示出减少线粒体损伤的潜力，但仍需进一步研究。
