Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia
Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia
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DOI：
10.1136/thoraxjnl-2015-207891
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发表时间：
2017-02-01
期刊：
影响因子：
10
通讯作者：
Maitre, Bernard
中科院分区：
文献类型：
--
作者：
Frija-Masson, Justine;Bassinet, Laurence;Maitre, Bernard
原发性纤毛运动障碍（PCD）是一种遗传性疾病，其特征是纤毛功能异常，导致慢性肺部和鼻窦疾病。成人的临床特点和结果是pointeds.Objectives评估成人PCD.Methods的临床特点和疾病进展的双中心回顾性研究，重点是成人（>= 18岁）与断言的PCD诊断的基础上存在的支气管扩张症与典型的纤毛和/或内脏逆位（SI）的超微结构缺陷。评估临床症状、呼吸功能、支气管扩张程度、微生物学和分子分析。结果以中位数（第25百分位数;第75百分位数）表示。91%的患者有呼吸道症状，95%的患者有慢性鼻窦炎。超微结构缺陷的一半涉及动力蛋白武器。女性患者呼吸功能显著降低（FEV 1 = 60%预测值（50; 76）vs 77%（62; 95），p=0.009），慢性气道铜绿假单胞菌（PA，n=21）感染患者呼吸功能显著降低（FEV 1 = 60%（48; 71）vs 75%（55; 89），p=0.04）。FEV 1与性别（男性回归系数= 13.8，p=0.009）、胸部CT评分（r=-0.42，p
Introduction Primary ciliary dyskinesia (PCD) is a genetic disease characterised by abnormalities in ciliary function, responsible for chronic pulmonary and sinonasal diseases. Adult clinical features and outcome are poorly described.Objectives To assess the clinical characteristics and disease progression in adults with PCD.Methods Bicentric retrospective study, focusing on adults (>= 18 years) with an asserted diagnosis of PCD based on the presence of bronchiectasis with typical ultrastructural defect of cilia and/or situs inversus (SI). Clinical symptoms, respiratory function, extent of bronchiectasis, microbiology and molecular analysis were assessed. Results are expressed as median (25th; 75th centile).Results 78 patients were included with a median follow-up of 8.1 years. 91% of patients had respiratory symptoms and 95% had chronic rhinosinusitis. Half of ultrastructural defects concerned dynein arms. Respiratory function was significantly lower in women (FEV1= 60% predicted (50; 76), vs 77% (62; 95), p=0.009) and in patients with chronic airway Pseudomonas aeruginosa (PA, n=21) infection (FEV1= 60% (48; 71) vs 75% (55; 89), p=0.04). FEV1 was associated with gender (regression coefficient for men = 13.8, p=0.009), chest CT score (r=-0.42, p