肝细胞腺瘤的发展在患有糖原储存疾病Ia的患者中,患者接受生长激素治疗
David G Jackson1, Rebecca L Koch1, Surekha Pendyal1
1Division of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
JIMD reports
|September 13, 2023
概括
低身高的糖原储存疾病Ia (GSD Ia) 患者可以接受生长激素 (GH) 治疗. 这一案例突显了GH治疗期间肝细胞腺瘤的发展,长期结果尚不清楚.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
背景情况:
- 糖原储存疾病Ia (GSD Ia),或·吉尔克病,是由影响葡萄糖-6-酸酶的G6PC1基因变异引起的.
- 这种酶缺乏会损害葡萄糖生成和糖原分解,导致低血糖症和乳酸化等代谢障碍.
- GSD Ia 患者经常出现肝大,高甘油三,高尿血,以及肝细胞腺瘤 (HCAs) 的风险增加.
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