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Abstract：
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil. We identified and described patients with suspected XLMTM using administrative claims data from the Brazilian public healthcare system.
METHODS: Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71.2), aged < 18 years at index date (first claim of G71.2), with an associated diagnostic procedure (muscle biopsy/genetic test) and without spinal muscular atrophy or Duchenne muscular dystrophy. We attempted to identify patients with suspected severe XLMTM based on use of both respiratory and feeding support, which are nearly universal in the care of XLMTM patients. Analyses were performed for the overall cohort and stratified by age at index date < 5 years old and ≥ 5 years old.
RESULTS: Of 173 patients with suspected XLMTM identified, 39% were < 5 years old at index date. Nearly all (N = 166) patients (96%) were diagnosed by muscle biopsy (91% of patients < 5 years old and 99% of patients ≥ 5 years old), six (3.5%) were diagnosed by clinical evaluation (8% of patients < 5 years old and 1% of patients ≥ 5 years old), and one was diagnosed by a genetic test. Most patients lived in Brasilia (n = 55), São Paulo (n = 33) and Minas Gerais (n = 27). More than 85% of patients < 5 years old and approximately 75% of patients ≥ 5 years old had physiotherapy at the index date. In both age groups, nearly 50% of patients required hospitalization at some point and 25% required mobility support. Respiratory and feeding support were required for 3% and 12% of patients, respectively, suggesting that between 5 and 21 patients may have had severe XLMTM.
CONCLUSIONS: In this real-world study, genetic testing for XLMTM appears to be underutilized in Brazil and may contribute to underdiagnosis of the disease. Access to diagnosis and care is limited outside of specific regions with specialized clinics and hospitals. Substantial use of healthcare resources included hospitalization, physiotherapy, mobility support, and, to a lesser extent, feeding support and respiratory support.
METHODS: Data from 2015 to 2019 were extracted from the DATASUS database. As no XLMTM-specific ICD-10 code was available, a stepwise algorithm was applied to identify patients with suspected XLMTM by selecting male patients with a congenital myopathies code (G71.2), aged < 18 years at index date (first claim of G71.2), with an associated diagnostic procedure (muscle biopsy/genetic test) and without spinal muscular atrophy or Duchenne muscular dystrophy. We attempted to identify patients with suspected severe XLMTM based on use of both respiratory and feeding support, which are nearly universal in the care of XLMTM patients. Analyses were performed for the overall cohort and stratified by age at index date < 5 years old and ≥ 5 years old.
RESULTS: Of 173 patients with suspected XLMTM identified, 39% were < 5 years old at index date. Nearly all (N = 166) patients (96%) were diagnosed by muscle biopsy (91% of patients < 5 years old and 99% of patients ≥ 5 years old), six (3.5%) were diagnosed by clinical evaluation (8% of patients < 5 years old and 1% of patients ≥ 5 years old), and one was diagnosed by a genetic test. Most patients lived in Brasilia (n = 55), São Paulo (n = 33) and Minas Gerais (n = 27). More than 85% of patients < 5 years old and approximately 75% of patients ≥ 5 years old had physiotherapy at the index date. In both age groups, nearly 50% of patients required hospitalization at some point and 25% required mobility support. Respiratory and feeding support were required for 3% and 12% of patients, respectively, suggesting that between 5 and 21 patients may have had severe XLMTM.
CONCLUSIONS: In this real-world study, genetic testing for XLMTM appears to be underutilized in Brazil and may contribute to underdiagnosis of the disease. Access to diagnosis and care is limited outside of specific regions with specialized clinics and hospitals. Substantial use of healthcare resources included hospitalization, physiotherapy, mobility support, and, to a lesser extent, feeding support and respiratory support.
摘要：
背景：X连锁肌管肌病（XLMTM）是一种罕见的，危及生命的先天性疾病，这不是明确定义的。据我们所知,在巴西，尚未进行描述XLMTM疾病负担的研究。我们使用巴西公共医疗系统的行政索赔数据识别和描述了疑似XLMTM患者。
方法：从DATASUS数据库中提取2015年至2019年的数据。由于没有XLMTM特定的ICD-10代码可用，通过选择患有先天性肌病（G71.2）的男性患者，应用逐步算法来识别疑似XLMTM的患者。在索引日期年龄<18岁(G71.2的第一次索赔)，与相关的诊断程序（肌肉活检/基因测试），没有脊髓性肌萎缩或Duchenne肌营养不良。我们试图根据呼吸和喂养支持的使用来识别疑似严重XLMTM的患者。这在XLMTM患者的护理中几乎是普遍的。对总体队列进行分析，并在指数日期<5岁和≥5岁时按年龄分层。
结果：在173名疑似XLMTM患者中，39%的人在指数日小于5岁。几乎所有（N=166）患者（96％）均通过肌肉活检诊断（91％的患者<5岁，99％的患者≥5岁）。通过临床评估诊断出6例（3.5％）（8％的患者<5岁，1％的患者≥5岁），一个是通过基因测试确诊的.大多数患者居住在巴西利亚（n=55），圣保罗（n=33）和米纳斯吉拉斯州（n=27）。超过85%的<5岁的患者和大约75%的≥5岁的患者在指数日接受了物理治疗。在这两个年龄组中，近50%的患者需要住院治疗,25%的患者需要移动支持.3％和12％的患者需要呼吸和喂养支持，分别,提示5至21例患者可能患有严重的XLMTM。
结论：在这项现实世界的研究中，XLMTM基因检测在巴西似乎未得到充分利用,可能导致该病的诊断不足.在拥有专门诊所和医院的特定地区之外，获得诊断和护理的机会有限。医疗资源的大量使用包括住院，物理治疗,移动性支持，and,在较小程度上，喂养支持和呼吸支持。
方法：从DATASUS数据库中提取2015年至2019年的数据。由于没有XLMTM特定的ICD-10代码可用，通过选择患有先天性肌病（G71.2）的男性患者，应用逐步算法来识别疑似XLMTM的患者。在索引日期年龄<18岁(G71.2的第一次索赔)，与相关的诊断程序（肌肉活检/基因测试），没有脊髓性肌萎缩或Duchenne肌营养不良。我们试图根据呼吸和喂养支持的使用来识别疑似严重XLMTM的患者。这在XLMTM患者的护理中几乎是普遍的。对总体队列进行分析，并在指数日期<5岁和≥5岁时按年龄分层。
结果：在173名疑似XLMTM患者中，39%的人在指数日小于5岁。几乎所有（N=166）患者（96％）均通过肌肉活检诊断（91％的患者<5岁，99％的患者≥5岁）。通过临床评估诊断出6例（3.5％）（8％的患者<5岁，1％的患者≥5岁），一个是通过基因测试确诊的.大多数患者居住在巴西利亚（n=55），圣保罗（n=33）和米纳斯吉拉斯州（n=27）。超过85%的<5岁的患者和大约75%的≥5岁的患者在指数日接受了物理治疗。在这两个年龄组中，近50%的患者需要住院治疗,25%的患者需要移动支持.3％和12％的患者需要呼吸和喂养支持，分别,提示5至21例患者可能患有严重的XLMTM。
结论：在这项现实世界的研究中，XLMTM基因检测在巴西似乎未得到充分利用,可能导致该病的诊断不足.在拥有专门诊所和医院的特定地区之外，获得诊断和护理的机会有限。医疗资源的大量使用包括住院，物理治疗,移动性支持，and,在较小程度上，喂养支持和呼吸支持。
