X 连锁肌小管肌病的多中心回顾性病历回顾：再统计研究。
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
机构信息
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue Boston, Massachusetts, USA.
Children's Research Institute, University of Florida, Gainesville, Gainesville, Florida, USA.
出版信息
Muscle Nerve. 2018 Apr;57(4):550-560. doi: 10.1002/mus.26018. Epub 2017 Dec 22.
INTRODUCTION
X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.
METHODS
RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.
RESULTS
Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital.
DISCUSSION
XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550-560, 2018.
简介
X 连锁肌小管肌病（XLMTM）以严重的肌张力减退、无力、呼吸窘迫和早期死亡为特征，较为罕见，且目前关于其自然病史的研究较少。
方法
REENSUS 是一项多中心的男性 XLMTM 患者图表回顾性研究，旨在描述疾病负担和未满足的医疗需求。数据收集于 2014 年 9 月至 2016 年 6 月期间。
结果
分析纳入了来自六个临床中心的 112 名患者。40 名患者的最近记录的年龄≤18 个月，72 名患者的年龄>18 个月。诊断时的平均（标准差）年龄分别为 3.7（3.7）个月和 54.3（77.1）个月。死亡率为 44%（≤18 个月的患者中为 64%；>18 个月的患者中为 32%）。34/110（31%）名新生儿存在早产。几乎所有患者（90%）在出生时都需要呼吸支持。在生命的第一年，患者平均进行了 3.7 次手术，有 35%的时间住院。
讨论
XLMTM 与高死亡率、疾病负担和医疗保健利用度相关。神经肌肉疾病 57: 550-560, 2018.
Zotero 插件