Busack Leonie M, Thee Stephanie, Liu Yvonne, Allomba Christine, Ziegahn Niklas, Tosolini Apolline, Pioch Charlotte O, Schnorr Alexandra N, Fuhlrott Bent R, Staudacher Olga, Völler Mirjam, Steinke Eva, Hanitsch Leif G, Röhmel Jobst, Wahn Volker, Krüger Renate, Mall Marcus A, von Bernuth Horst, Stahl Mirjam
Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
ERJ Open Res. 2024 Mar 11;10(2). doi: 10.1183/23120541.01019-2023. eCollection 2024 Mar.
Pulmonary manifestations are the major cause of morbidity and mortality in patients with inborn errors of immunity (IEI). New and more sensitive diagnostic methods can potentially lead to earlier recognition and treatment of IEI lung disease and improve outcome. The aim of this study was to compare multiple-breath washout (MBW) and spirometry in patients with IEI and cystic fibrosis (CF) as well as healthy controls (HC) and to evaluate the sensitivity of lung clearance index (LCI) to assess lung disease in IEI.
IEI patients (n=114) were recruited from our paediatric and adult immunodeficiency outpatient clinics and compared to age-matched CF patients (n=114) and HC (n=114). MBW measurements and spirometry were performed in the study participants, and MBW testing was repeated after 63-707 days in IEI patients (n=70).
The LCI was significantly higher in IEI patients than in HC (<0.001) and significantly lower than in CF patients (p<0.001). The forced expiratory volume in 1 s (FEV) z-score was significantly lower in IEI patients than in HC (p<0.01) and significantly higher than in CF patients (p<0.01). LCI and FEV z-score correlated moderately negatively in the total cohort, the IEI group and the CF group. Nineteen (20.7%) of 92 IEI patients and 35 (33.3%) of 105 CF patients had an elevated LCI but a normal FEV z-score. After a median of 364 days, the median LCI of 70 IEI patients increased significantly by 0.2.
MBW is useful to detect lung disease in IEI and is more sensitive than spirometry.
肺部表现是先天性免疫缺陷（IEI）患者发病和死亡的主要原因。更新且更敏感的诊断方法可能会使IEI肺部疾病得到更早的识别和治疗，并改善预后。本研究的目的是比较IEI患者、囊性纤维化（CF）患者以及健康对照（HC）的多次呼吸冲洗（MBW）和肺量测定，并评估肺清除指数（LCI）评估IEI肺部疾病的敏感性。
从我们的儿科和成人免疫缺陷门诊招募IEI患者（n = 114），并与年龄匹配的CF患者（n = 114）和HC（n = 114）进行比较。对研究参与者进行MBW测量和肺量测定，IEI患者（n = 70）在63 - 707天后重复进行MBW测试。
IEI患者的LCI显著高于HC（<0.001），且显著低于CF患者（p<0.001）。IEI患者的1秒用力呼气容积（FEV）z评分显著低于HC（p<0.01），且显著高于CF患者（p<0.01）。在整个队列、IEI组和CF组中，LCI与FEV z评分呈中度负相关。92例IEI患者中有19例（20.7%）和105例CF患者中有35例（33.3%）的LCI升高但FEV z评分正常。中位364天后，70例IEI患者的中位LCI显著增加了0.2。
MBW有助于检测IEI中的肺部疾病，且比肺量测定更敏感。
