妊娠合并糖原累积病Ⅰa型一例并文献复习

doi:10.12280/gjfckx.20210135

摘要/Abstract

摘要：

糖原累积病Ⅰ型（glycogen storage disease typeⅠ,GSDⅠ型）是一种常染色体隐性遗传病,又称von Gierk病,GSDⅠa是最常见的亚型,由于葡萄糖-6-磷酸酶（G6Pase）活性缺乏引起多种临床表现。本研究回顾性分析广西医科大学第一附属医院收治的1例妊娠合并GSDⅠa型病例的临床资料,并结合相关文献,了解GSDⅠa型患者的临床特点、诊断及在妊娠期的处理原则。GSD应尽早诊治,因其错综复杂的特征,极易误诊。GSDⅠa患者在严格遵守饮食管理的情况下是可以成功妊娠的,建议在妊娠前咨询以确保严格的代谢控制。必要时多学科参与制定妊娠期管理策略。

关键词: 糖原贮积病Ⅰ型, 妊娠, 腺瘤,肝细胞, 贫血, 治疗, G6PC基因

Abstract:

Glycogen storage disease typeⅠ(GSDⅠ), also known as von Gierk disease, is an autosomal recessive disorder resulting from the deficiency of glucose-6-phosphatase (G6Pase) activity. GSDⅠa is the most common subtype of GSDⅠ, which can cause many kinds of clinical symptoms. The clinical data of one case of pregnancy complicated with GSDⅠa admitted to the First Affiliated Hospital of Guangxi Medical University were analyzed retrospectively. The clinical characteristics, diagnosis and management of pregnancy complicated with GSDⅠa were analyzed based on previous literature and some cases. GSD should be diagnosed and treated early, because it is easy to be misdiagnosed due to its complicated characteristics. Patients with GSDⅠa can successfully conceive under the condition of strict diet management, ensuring good metabolic control with pre-pregnancy counselling. Series strategies should be taken by multidisciplinary involvement when necessary.

Key words: Glycogen storage disease type I, Pregnancy, Adenoma,liver cell, Anemia, Therapy, G6PC gene

殷红宇, 李丽玲, 陈悦. 妊娠合并糖原累积病Ⅰa型一例并文献复习[J]. 国际妇产科学杂志, 2021, 48(6): 679-683.

YIN Hong-yu, LI Li-ling, CHEN Yue. Pregnancy with Glycogen Storage Disease Type Ⅰa: A Case Report and Literature Review[J]. Journal of International Obstetrics and Gynecology, 2021, 48(6): 679-683.

图/表 2

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