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Gregory Lynch^1,2, Alison Woodall², Charlotte Dawson³

¹Clinical Biochemistry Department Northern Care Alliance NHS Foundation Trust Salford UK.

|March 2, 2026

概括

糖原储存疾病1b (GSD1b) 在成年时可能出现肝硬化和痛风等并发症,而不仅仅是儿童低血糖症. 这个案例突出了非典型的GSD1b表现和潜在的治疗反应.

科学领域:

代谢障碍代谢障碍代谢障碍
遗传学遗传学是一个
肝病学肝病学是一种肝病学.

背景情况:

糖原储存疾病1b (GSD1b) 在婴儿期典型呈现为低血糖症,肝壮症和中性衰竭.
典型的GSD1b管理侧重于预防禁食诱导的低血糖症.

研究的目的:

报告在成年期诊断的第一个GSD1b病例.
描述成年人GSD1b的非典型的非低血糖并发症.
调查empagliflozin对GSD1b中性质衰竭的影响.

主要方法:

两名成年兄弟姐妹被诊断出患有GSD1b. 的案例报告.
临床评估包括禁食耐受性,代谢参数和肝脏评估.
监测中性衰竭和对empagliflozin治疗的反应.

主要成果:

成年人诊断的GSD1b在兄弟姐妹与正常的童年禁食耐受.
青春期发生结节性肝硬化,成年期出现高尿素血与痛风和结石病.
在一个兄弟姐妹中,轻微的中性缺血,对empagliflozin反应良好.

结论:

GSD1b可以在成年时表现为非低血糖并发症,挑战典型的诊断标准.
成人发病的GSD1b需要在患有无法解释的代谢障碍和肝病的患者中考虑.
恩帕格利弗洛辛可能为GSD1b.b中的中性衰竭提供治疗选择.

关键词:

减弱的弱化减弱的弱化艾姆帕格利夫洛辛 (Empagliflozin) 是一种糖原储存疾病 Ib Ib 糖原储存疾病这是长期的结果.自然历史,自然历史.

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