{"title":"妊娠期 Crigler-Najjar II 型:病例报告","authors":"Katherine Creeper, Dorothy Graham","doi":"10.1177/1753495X221099443","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":51717,"journal":{"name":"Obstetric Medicine","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504887/pdf/","citationCount":"0","resultStr":"{\"title\":\"Crigler-Najjar type II in pregnancy: A case report.\",\"authors\":\"Katherine Creeper, Dorothy Graham\",\"doi\":\"10.1177/1753495X221099443\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":51717,\"journal\":{\"name\":\"Obstetric Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10504887/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetric Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/1753495X221099443\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/5/12 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetric Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/1753495X221099443","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/5/12 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
Crigler-Najjar 是一种罕见的常染色体隐性遗传疾病,由于基因突变导致肝脏尿苷二磷酸-葡萄糖醛酸转移酶(UDPGT)完全缺失(I 型)或缺乏(II 型)。然而,这两种类型都会导致未结合高胆红素血症,进而导致核黄疸,甚至死亡。苯巴比妥可用作 II 型妊娠的酶诱导剂,以促进血清总胆红素的降低。我们报告了一名患有 Crigler-Najjar II 型综合征的 29 岁女性连续两次怀孕的情况。第一次妊娠在妊娠 16 周时开始使用苯巴比妥治疗,并取得了良好的生化和临床效果。没有新生儿神经系统长期后遗症的报道。为了获得最佳的妊娠效果,建议在三级中心接受多学科治疗。
Crigler-Najjar type II in pregnancy: A case report.
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.