Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.
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患有成骨不全症的儿童和年轻人的肺功能和结构异常指向内在和外在的肺异常。
DOI：
10.1136/jmg-2022-109009
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发表时间：
2023
影响因子：
4
通讯作者：
Marini,JoanC
中科院分区：
文献类型：
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作者：
Gochuico,BernadetteR;Hossain,Mahin;Talvacchio,SaraK;Zuo,MeiXingG;Barton,Mark;DangDo,AnNgoc;Marini,JoanC
目的肺部疾病是成骨不全症（OI）发病和死亡的主要原因。方法III型（n=8）、IV型（n=21）、VI型（n=5）、VII型（n=2）或XIV型（n=1）成骨不全患者（平均年龄23.6岁）前瞻性接受肺功能检查（PFTs）、胸部CT和x线片检查。结果用臂幅或尺长代替高度时，spft结果相似。III型患者的pft明显低于IV型或VI型OI。所有III型和一半IV型成骨不全患者均有肺功能受限；90%的成骨不全患者气体交换减少。与col1a2变异患者相比，col1a1变异患者的用力呼气流量（FEF）显著降低25%-75%。pft与Cobb角或年龄呈负相关。CT扫描显示小气道支气管增厚（100%,86%,100%），肺不张（88%,43%,40%），网状（50%,29%,20%），磨玻璃混浊（75%,5%,0%），胸膜增厚（63%,48%,20%）或肺气肿（13%,19%,20%）分别为III型，IV型或VI型OI。结论肺内、外源性骨骼异常均可导致OI肺功能障碍。大多数青壮年患者有限制性疾病和异常气体交换；III型比IV型OI损伤更大。fef25 - 75%下降和小支气管壁增厚表明小气道的关键作用。肺实质异常（肺不张、网状）和胸膜增厚也被发现。临床干预，以减轻这些损害是必要的。试验注册号：bernct03575221。
PurposePulmonary disease is the major cause of morbidity and mortality in osteogenesis imperfecta (OI). We investigated the contribution of intrinsic lung factors to impaired pulmonary function in children and young adults with OI types III, IV, VI.MethodsPatients with type III (n=8), IV (n=21), VI (n=5), VII (n=2) or XIV (n=1) OI (mean age 23.6 years) prospectively underwent pulmonary function tests (PFTs) and thoracic CT and radiographs.ResultsPFT results were similar using arm span or ulnar length as height surrogates. PFTs were significantly lower in type III than type IV or VI OI. All patients with type III and half of type IV OI had lung restriction; 90% of patients with OI had reduced gas exchange. Patients withCOL1A1variants had significantly lower forced expiratory flow (FEF)25%–75% compared with those withCOL1A2variants. PFTs correlated negatively with Cobb angle or age. CT scans revealed small airways bronchial thickening (100%, 86%, 100%), atelectasis (88%, 43%, 40%), reticulations (50%, 29%, 20%), ground glass opacities (75%, 5%, 0%), pleural thickening (63%, 48%, 20%) or emphysema (13%, 19%, 20%) in type III, IV or VI OI, respectively.ConclusionBoth lung intrinsic and extrinsic skeletal abnormalities contribute to OI pulmonary dysfunction. Most young adult patients have restrictive disease and abnormal gas exchange; impairment is greater in type III than type IV OI. Decreased FEF25%–75% and thickening of small bronchi walls indicate a critical role for small airways. Lung parenchymal abnormalities (atelectasis, reticulations) and pleural thickening were also detected. Clinical interventions to mitigate these impairments are warranted.Trial registration numberNCT03575221.