Hu Hillary, Nayyar Roshini, Berglund Lucinda Jean, Anderson Elizabeth Anne
Department of Obstetrics and Gynaecology, Westmead Hospital, Sydney, New South Wales, Australia.
Department of Maternal and Foetal Medicine, Obstetrics and Gynaecology, Westmead Hospital, Sydney, New South Wales, Australia.
BMJ Case Rep. 2017 Feb 2;2017:bcr2016218093. doi: 10.1136/bcr-2016-218093.
Congenital analbuminaemia is a rare autosomal recessive disorder that is characterised by a severe reduction or total absence of serum albumin. This condition has implications for therapeutics as a large proportion of commonly used drugs are plasma protein bound where albumin is the primary component of plasma protein. This is the first case report of pregnancy in a patient with congenital analbuminaemia in the medical literature. In the absence of drug dosage guidelines for patients with congenital analbuminaemia, a list of drugs which may be required for this patient during pregnancy, delivery and/or emergency situations were compiled by a multidisciplinary team. Our patient suffered from polyhydramnios during her pregnancy which was successfully managed with albumin transfusions and had a normal vaginal delivery with no complications in the intrapartum or postpartum period. The management and unique challenges of pregnancy in a patient with congenital analbuminaemia are discussed.
先天性无白蛋白血症是一种罕见的常染色体隐性疾病，其特征是血清白蛋白严重减少或完全缺失。这种情况对治疗有影响，因为很大一部分常用药物与血浆蛋白结合，而白蛋白是血浆蛋白的主要成分。这是医学文献中首例关于先天性无白蛋白血症患者怀孕的病例报告。由于缺乏针对先天性无白蛋白血症患者的药物剂量指南，一个多学科团队编制了该患者在妊娠、分娩和/或紧急情况下可能需要的药物清单。我们的患者在孕期患有羊水过多，通过输注白蛋白成功得到处理，并进行了正常的阴道分娩，产时和产后均无并发症。本文讨论了先天性无白蛋白血症患者妊娠的管理及独特挑战。
