Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
J Inherit Metab Dis. 2013 Mar;36(2):309-22. doi: 10.1007/s10545-012-9459-0. Epub 2012 Feb 23.
Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.
黏多糖贮积症 IVA 型(MPS IVA)或 Morquio 综合征是一种多系统疾病,由半乳糖胺-6-硫酸酯酶缺乏引起。骨骼表现,包括身材矮小、骨骼发育不良、颈椎不稳定和关节破坏,与这种情况有关。由于这些骨骼表现的严重程度,尽管它们对疾病进展和生活质量有重大影响,但非骨骼表现经常被忽视。这篇综述提供了有关非骨骼表现的详细信息,并提出了长期评估指南。讨论了视觉、听觉、消化、心血管和呼吸系统,以及通过耐力和其他功能能力衡量的整体生活质量。讨论了角膜混浊、散光、青光眼、听力损失、疝气、肝肿大、牙齿异常、心脏瓣膜增厚和反流、阻塞性睡眠呼吸暂停、气管软化、限制性和阻塞性呼吸功能障碍以及肌肉无力等损害。需要提高对这些非骨骼特征的认识,以改善患者护理。