• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Inborn Errors of Metabolism & Screening >Book of Abstracts
【24h】

Book of Abstracts

机译：摘要书

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Purpose: Although the clinical presentation of Mucopolysaccharidoses (MPS) may be very heterogeneous, showing variable severity of phenotypes, similar events should motivate clinical suspicion for clinical diagnosis. Overall, the head and neck structures are impacted very early in the disease, usually with recurrent airway infections, otitis media with effusion, hearing loss, delayed speech-language development, severe adenotonsillar hypertrophy, sleep disturbances and other respiratory problems. This study aims to estimate the role of the otorhinolaryngologist in the early diagnosis of MPS through clinical history data recovery from patients followed at Fernandes Figueira Institute / Fiocruz Rio de Janeiroa??Brazil, reference center for the treatment of rare diseases. Methodology: A retrospective review was performed from the medical records in addition to interviews with the patientsa?? guardians, taking into account the history of ENT complaints, number of prior consultations, and also surgery and anesthetic procedures. Results: 24 patients were included, 5 with MPS I, 8 with MPS II, 4 with MPS IV-A and 7 with MPS VI. 43.5% reported that patients presented otitis/ear pain prior to MPS diagnosis; 65.2% have shown symptoms of snoring/apnea; 39.1% have informed about their suspicions of hearing loss, 54.2% reported that there was delay in language acquisition and in 58.3% airway symptoms were among the first manifestations of the disease. These figures show the high prevalence of ear-nose and throat (ENT) involvement since the beginning of the natural history of MPS. In this sample, 70.8% were suspected as MPS by medical geneticists, and in none of the cases the otorhinolaryngologist contributed to early diagnosis, although the number of appointments with this specialist was 1.7 per patient, with a maximum of 10 consultations for the same individual before the MPS diagnosis. One patient underwent adenotonsillectomy and bilateral myringotomy before the diagnosis of MPS, which exposed him to greater risks since surgical procedures in this group of patients require specific care. Conclusion: Otorhinolaryngologists are among the first medical specialists who evaluate MPS patients when the underlying diagnosis is not yet known. Nevertheless, these experts have not been contributing to its earlier confirmation, which could lead to early introduction of specific treatment, preventing irreversible damage. Thus, it is crucial to train these specialists in order to provide early diagnosis of MPS, with a significant impact on the prognosis of MPS patients.
机译：目的：尽管粘多糖酶（MPS）的临床表现可能非常异质，表现出不同的表型严重性，但类似事件应引起临床怀疑以进行临床诊断。总体而言，该病的头部和颈部结构在疾病的早期受到影响，通常伴有反复的气道感染，中耳积液，听力下降，语言发展延迟，腺扁桃体肥大，睡眠障碍和其他呼吸系统疾病。这项研究的目的是通过从费尔南德斯·菲盖拉研究所（Fernandes Figueira Institute）/ Fiocruz Rio de Janeiroa ??巴西（罕见病治疗参考中心）随访患者的临床历史数据来评估耳鼻喉科医生在MPS早期诊断中的作用。方法：除了对患者进行访谈外，还对病历进行回顾性审查。监护人，应考虑到耳鼻喉科的病史，事先咨询的次数以及手术和麻醉程序。结果：共纳入24例患者，其中MPS I 5例，MPS II 8例，MPS IV-A 4例，MPS VI 7例。 43.5％的患者报告在MPS诊断之前出现中耳炎/耳痛; 65.2％的人出现打/呼吸暂停症状; 39.1％的人听说过他们有听力损失的嫌疑，54.2％的人报告说语言习得有所延迟，58.3％的呼吸道症状是该病的首发表现。这些数字表明，自MPS的自然史开始以来，耳鼻咽喉（ENT）的患病率很高。在该样本中，医学遗传学家怀疑70.8％为MPS，尽管这名专家的预约人数为每位患者1.7位，但耳鼻喉科医生均未对早期诊断做出任何贡献，同一个人最多可以接受10次咨询在MPS诊断之前。在诊断出MPS之前，一名患者接受了腺扁桃体切除术和双侧脑室切开术，这使他面临更大的风险，因为该组患者的外科手术需要特殊护理。结论：耳鼻喉科医生是最早对MPS患者进行评估的医学专家，但尚不清楚潜在的诊断依据。但是，这些专家并未为它的早期确认做出贡献，这可能导致早期采用特定的治疗方法，以防止不可逆转的损害。因此，培训这些专家以提供MPS的早期诊断至关重要，这对MPS患者的预后具有重大影响。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号