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多学科团队协作方法是管理罕见、复杂的黏多糖贮积症I型患者妊娠和分娩的关键。

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I.

作者信息

Troko J, Poonawala Y, Geberhiwot T, Martin B

机构信息

Birmingham Women's Hospital, Mindelsohn Way, Birmingham, B15 2TG, UK.

University of Birmingham and Queen Elizabeth Medical Centre, Mindelsohn Way, Birmingham, B15 2GW, UK.

出版信息

JIMD Rep. 2016;30:1-5. doi: 10.1007/8904_2016_527. Epub 2016 Feb 27.

DOI:10.1007/8904_2016_527
PMID:26920904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5110447/
Abstract

A 23-year-old primiparous lady (Ms S) was referred to preconception clinic with known Hurler-Scheie syndrome (mucopolysaccharidosis 1). Ms S had been under the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, geneticists and endocrinologists in two tertiary referral hospitals throughout her pregnancy. She went on to deliver a live male child at 37/40 by elective caesarean section. As far as we are aware, this is the first case report of a term pregnancy in a woman with moderate to severe mucopolysaccharidosis 1 (MPS 1).

摘要

一名23岁的初产妇（S女士）因已知患有Hurler-Scheie综合征（黏多糖贮积症1型）被转诊至孕前门诊。S女士在怀孕前一直由成人遗传性代谢疾病医生负责照料。她和伴侣接受了产前咨询，自然受孕后，在两家三级转诊医院，由包括胎儿-母亲产科医生、麻醉师、心脏病专家、遗传学家和内分泌学家在内的多学科团队在整个孕期对其进行密切管理。她在孕37/40周时通过择期剖宫产分娩了一名活男婴。据我们所知，这是首例关于中重度黏多糖贮积症1型（MPS 1）女性足月妊娠的病例报告。