家族性自主神经障碍(Riley-Day综合征,遗传性感觉自主神经病变III型)是一种罕见的遗传性疾病,由感觉和传入自主神经发育受损引起。因此,患者出现神经源性吞咽困难,频繁误吸,慢性肺病,和化学反射失败导致严重的睡眠呼吸障碍。这些指南的目的是为家族性自主神经障碍的呼吸系统疾病的诊断和治疗提供建议。
我们进行了系统回顾,以总结与我们的问题有关的证据。当证据不充分时,我们使用了纽约大学家族性自主神经障碍患者登记处的数据,该数据库包含来自670例病例的持续前瞻性综合临床数据.多学科专家小组对证据进行了总结和讨论。然后提出了基于证据的建议和专家建议,writed,并使用建议分级进行分级,评估,发展,和评估(等级)系统。
针对或针对特定诊断测试和临床干预措施制定了建议。审查的诊断测试包括放射学评估,吞咽困难评估,胃食管评估,支气管镜检查和支气管肺泡灌洗,肺功能检查,喉镜检查和多导睡眠图。审查的临床干预措施和治疗包括预防和管理误吸,气道粘液清除和胸部物理治疗,病毒性呼吸道感染,高空或空中飞行期间的预防措施,睡眠期间的无创通气,抗生素治疗,类固醇治疗,氧疗,胃造瘘管放置,尼森胃底折叠术,脊柱侧凸手术,气管切开术和肺叶切除术。
提供了家族性自主神经障碍患者呼吸系统疾病诊断和治疗的专家建议。需要经常重新评估和更新。
Familial dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type-III) is a rare genetic disease caused by impaired development of sensory and afferent autonomic nerves. As a consequence, patients develop neurogenic dysphagia with frequent aspiration, chronic lung disease, and chemoreflex failure leading to severe sleep disordered breathing. The purpose of these
guidelines is to provide recommendations for the diagnosis and treatment of respiratory disorders in familial dysautonomia.
We performed a systematic review to summarize the evidence related to our questions. When evidence was not sufficient, we used data from the New York University Familial Dysautonomia Patient Registry, a database containing ongoing prospective comprehensive clinical data from 670 cases. The evidence was summarized and discussed by a multidisciplinary panel of experts. Evidence-based and expert recommendations were then formulated, written, and graded using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system.
Recommendations were formulated for or against specific diagnostic tests and clinical interventions. Diagnostic tests reviewed included radiological evaluation, dysphagia evaluation, gastroesophageal evaluation, bronchoscopy and bronchoalveolar lavage, pulmonary function tests, laryngoscopy and polysomnography. Clinical interventions and therapies reviewed included prevention and management of aspiration, airway mucus clearance and chest physical therapy, viral respiratory infections, precautions during high altitude or air-flight travel, non-invasive ventilation during sleep, antibiotic therapy, steroid therapy, oxygen therapy, gastrostomy tube placement, Nissen fundoplication surgery, scoliosis surgery, tracheostomy and lung lobectomy.
Expert recommendations for the diagnosis and management of respiratory disease in patients with familial dysautonomia are provided. Frequent reassessment and updating will be needed.