Mahle Amanda Caroline, Morris Bernard David, Frazer Zane, Novak Christopher
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
BMJ Case Rep. 2021 Mar 10;14(3):e240248. doi: 10.1136/bcr-2020-240248.
Progressive familial intrahepatic cholestasis (PFIC) is a rare disease of impaired bile acid excretion which can lead to nutritional deficiencies. Vitamin deficiencies during pregnancy can result in adverse maternal and fetal outcomes. A 20-year-old primiparous woman at 30 4/7 weeks with PFIC type 2 presented with worsening cholestasis, coagulopathy and fat-soluble vitamin deficiency. She developed visual deficits and was found to have severe vitamin A deficiency. Her coagulopathy and visual deficits improved following vitamin K and A supplementation, respectively. She delivered at 32 2/7 weeks following preterm labour. This case highlights several unique aspects in the care of pregnant women with liver disease. These patients are at risk for fat-soluble vitamin deficiencies which can result in significant coagulopathy and rarely, visual deficits due to vitamin A deficiency. Prompt treatment is necessary to prevent permanent sequelae.
进行性家族性肝内胆汁淤积症（PFIC）是一种罕见的胆汁酸排泄受损疾病，可导致营养缺乏。孕期维生素缺乏可导致不良的母婴结局。一名20岁初产妇，孕30 4/7周，患有2型PFIC，出现胆汁淤积加重、凝血障碍和脂溶性维生素缺乏。她出现了视力缺陷，被发现严重缺乏维生素A。补充维生素K和A后，她的凝血障碍和视力缺陷分别得到改善。她在早产32 2/7周时分娩。该病例突出了肝病孕妇护理中的几个独特方面。这些患者有脂溶性维生素缺乏的风险，这可能导致严重的凝血障碍，罕见的情况下，会因维生素A缺乏导致视力缺陷。及时治疗对于预防永久性后遗症很有必要。
