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产前皮质激素治疗后鸟氨酸转氨甲酰酶突变携带者的高氨血症昏迷。

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.

机构信息

Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Evanston, IL, USA.

出版信息

J Perinatol. 2011 Oct;31(10):682-4. doi: 10.1038/jp.2011.23.

DOI:10.1038/jp.2011.23
PMID:21956151
Abstract

Women who are carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia during the postpartum period and at times of metabolic stress. We present a unique case of hyperammonemic coma occurring in an OTC mutation carrier during the antepartum period. Multiple factors, including the administration of antenatal corticosteroids, likely precipitated this critical condition. Clinicians should be aware of this life-threatening clinical presentation and be prepared to identify, treat, and prevent hyperammonemia in affected individuals.

摘要

患有鸟氨酸转氨甲酰酶(OTC)突变的女性在产后和代谢应激期间有发生高氨血症的风险。我们报告了一例 OTC 突变携带者在产前期间发生高氨血症性昏迷的独特病例。多种因素,包括产前皮质类固醇的给药,可能引发了这种危急情况。临床医生应该意识到这种危及生命的临床表现,并准备好识别、治疗和预防受影响个体的高氨血症。

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