Creeper Katherine, Graham Dorothy
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.
Obstet Med. 2023 Sep;16(3):184-186. doi: 10.1177/1753495X221099443. Epub 2022 May 12.
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.
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。