Suppr超能文献

妊娠期克里格勒-纳贾尔综合征II型:一例报告。

Crigler-Najjar type II in pregnancy: A case report.

作者信息

Creeper Katherine, Graham Dorothy

机构信息

Department of Obstetric Medicine, King Edward Memorial Hospital for Women, Subiaco, Australia.

Faculty of Health and Medical Sciences, The University of Western Australia, Nedlands, Australia.

出版信息

Obstet Med. 2023 Sep;16(3):184-186. doi: 10.1177/1753495X221099443. Epub 2022 May 12.

Abstract

Crigler-Najjar is a rare, autosomal recessive disorder that results in mutations causing a complete absence (type I) or deficiency (type II) of the hepatic uridine diphospho-glucuronosyl transferase (UDPGT) enzyme. Both forms, however, result in unconjugated hyperbilirubinaemia which can lead to kernicterus and potentially death. Phenobarbitone can be used as an enzyme inducer in Type II to facilitate a reduction in total serum bilirubin. We report two consecutive pregnancies in a 29-year-old woman with Crigler-Najjar Type II syndrome. Phenobarbitone therapy was commenced in the first pregnancy at 16 weeks' gestation and was associated with favorable biochemical and clinical outcomes. There were no reports of long-term neonatal neurological sequelae. Tertiary center, multidisciplinary care is recommended for optimal pregnancy outcomes.

摘要

克里格勒-纳贾尔综合征是一种罕见的常染色体隐性疾病,其导致的突变会造成肝脏尿苷二磷酸葡糖醛酸基转移酶(UDPGT)完全缺失(I型)或缺乏(II型)。然而,这两种类型都会导致非结合性高胆红素血症,进而可能引发核黄疸并导致死亡。苯巴比妥可作为II型的酶诱导剂,以促进血清总胆红素降低。我们报告了一名29岁患有克里格勒-纳贾尔II型综合征的女性连续两次怀孕的情况。在第一次怀孕16周时开始苯巴比妥治疗,取得了良好的生化和临床效果。未报告有长期新生儿神经后遗症。建议在三级中心进行多学科护理,以获得最佳妊娠结局。

相似文献

1
Crigler-Najjar type II in pregnancy: A case report.妊娠期克里格勒-纳贾尔综合征II型:一例报告。
Obstet Med. 2023 Sep;16(3):184-186. doi: 10.1177/1753495X221099443. Epub 2022 May 12.
6
Gene replacement therapy for genetic hepatocellular jaundice.遗传性肝细胞性黄疸的基因替代治疗。
Clin Rev Allergy Immunol. 2015 Jun;48(2-3):243-53. doi: 10.1007/s12016-014-8454-7.

本文引用的文献

1
Management of Crigler-Najjar syndrome.克里格勒-纳贾尔综合征的管理
Med Pharm Rep. 2021 Aug;94(Suppl No 1):S64-S67. doi: 10.15386/mpr-2234. Epub 2021 Aug 10.
2
Update on the contraceptive contraindications.避孕禁忌的最新情况。
J Gynecol Obstet Hum Reprod. 2019 May;48(5):297-307. doi: 10.1016/j.jogoh.2019.02.006. Epub 2019 Feb 20.
4
Epilepsy and recommendations for breastfeeding.癫痫与母乳喂养建议
Seizure. 2015 May;28:57-65. doi: 10.1016/j.seizure.2015.02.013. Epub 2015 Mar 16.
6
Crigler-Najjar syndrome II and pregnancy outcome.克里格勒-纳贾尔综合征II型与妊娠结局。
J Obstet Gynaecol. 2012 Feb;32(2):188-9. doi: 10.3109/01443615.2011.636158.
9
The anesthetic implications of Crigler-Najjar syndrome.克里格勒-纳贾尔综合征的麻醉相关问题
Anesth Analg. 2007 Feb;104(2):435-6. doi: 10.1213/01.ane.0000252462.70451.0e.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验