Andersen Jane Dahl, Lyster Marie Louise, Holst Mette Kathrine, Henriksen Daniel Pilsgaard, Christensen Anders, Laursen Christian B, Forlino Antonella, Folkestad Lars
Department of Internal Medicine, Lillebaelt Hospital, Kolding, Denmark.
Department of Endocrinology, Odense University Hospital, Odense, Denmark.
Chest. 2025 Mar;167(3):806-817. doi: 10.1016/j.chest.2024.09.004. Epub 2024 Sep 17.
Osteogenesis imperfecta (OI) is a rare hereditary disease mainly resulting in reduced or altered collagen type I. Collagen type I is a major constituent of the respiratory system, and normal collagen type I is vital for pulmonary tissue function.
Do patients with OI have increased admission rates resulting from pulmonary diseases compared with the general population?
This was a register-based nationwide cohort study including all patients with OI in Denmark and a reference population. From January 1, 1995, through December 31, 2018, we evaluated the rates of admissions resulting from asthma, COPD, and pneumonia as well as the use of bronchodilator drugs and antibiotics comparing individuals with OI with the reference population.
We included 862 individuals with OI and 4,283 people from the reference population covering 15,952 and 79,471 person-years of observation, respectively, in the two cohorts. The admissions rate (incidence rate [IR]) was highest in female patients with OI aged 65 years or older, with 56.3 admissions per 1,000 person-years and 29.4 admissions per 1,000 person-years in the reference population (amounting to an admissions incident rate ratio [IRR] of 1.91 [95% CI, 1.38-2.70]). The highest admission rate in male patients with OI was found among participants aged 0 to 18 years, with an IR of 30.4 per 1,000 person-years compared with an IR of 7.7 per 1,000 person-years in the reference population (IRR, 4.92 [95% CI, 3.79-6.38]). We found a higher proportion of long-acting and short-acting bronchodilator drug users in the OI cohort, but no increased use of antibiotics.
Overall, the admission rates for respiratory diseases were low in the OI cohort, but a higher relative risk of hospitalizations resulting from respiratory disease compared with the general population. Timely diagnosis and treatment of respiratory complications in individuals with OI is warranted.
成骨不全症（OI）是一种罕见的遗传性疾病，主要导致I型胶原蛋白减少或改变。I型胶原蛋白是呼吸系统的主要成分，正常的I型胶原蛋白对肺组织功能至关重要。
与普通人群相比，OI患者因肺部疾病导致的住院率是否增加？
这是一项基于登记的全国性队列研究，纳入了丹麦所有的OI患者和一个对照人群。从1995年1月1日至2018年12月31日，我们评估了哮喘、慢性阻塞性肺疾病（COPD）和肺炎导致的住院率，以及支气管扩张剂药物和抗生素的使用情况，将OI患者与对照人群进行比较。
我们纳入了862例OI患者和4283名对照人群，两个队列的观察人年数分别为15952和79471。65岁及以上的女性OI患者住院率（发病率[IR]）最高，每1000人年有56.3次住院，对照人群为每1000人年29.4次住院（住院发病率比[IRR]为1.91[95%CI，1.38 - 2.70]）。OI男性患者中，0至18岁参与者的住院率最高，每1000人年的IR为30.4，对照人群为每1000人年7.7（IRR，4.92[95%CI，3.79 - 6.38]）。我们发现OI队列中长效和短效支气管扩张剂药物使用者的比例更高，但抗生素使用没有增加。
总体而言，OI队列中呼吸系统疾病的住院率较低，但与普通人群相比，因呼吸系统疾病住院的相对风险更高。有必要对OI患者的呼吸并发症进行及时诊断和治疗。
