Finnigan Niamh, Roberts Jane, Mercer Jean, Jones Simon A
Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, UK.
Mol Genet Metab Rep. 2017 Nov 5;14:15-18. doi: 10.1016/j.ymgmr.2017.10.012. eCollection 2018 Mar.
Enzyme replacement therapy is the only available treatment for Mucopolysaccharidosis type IVA (MPS IVA, Morquio syndrome). The treatment is lengthy and invasive involving weekly intravenous infusions of 4-5 h. This can cause significant disruption to normal family life so the provision of a safe and effective homecare service is essential. In order to deliver a safe service, robust standards must be in place; this includes appropriately trained members of homecare staff, detailed management for infusion related reactions (IRR) and appropriate venous access. In this report we demonstrate the criteria required to ensure a successful home treatment programme and describe our experience thus far.
酶替代疗法是治疗IVA型黏多糖贮积症（MPS IVA，莫尔基奥综合征）的唯一可用疗法。该治疗过程漫长且具有侵入性，需要每周进行4至5小时的静脉输注。这会对正常家庭生活造成严重干扰，因此提供安全有效的家庭护理服务至关重要。为了提供安全的服务，必须制定严格的标准；这包括对家庭护理人员进行适当培训、对输液相关反应（IRR）进行详细管理以及确保适当的静脉通路。在本报告中，我们阐述了确保家庭治疗方案成功所需的标准，并描述了我们迄今为止的经验。
