Annunziata Anna, Fiorentino Giuseppe, Balestrino Marco, Rega Roberto, Spinelli Sara, Atripaldi Lidia, Sola Alessio, Massaro Federica, Calabrese Cecilia
Department of Intensive Care, Azienda Ospedaliera di Rilievo Nazionale dei Colli, 80131 Naples, Italy.
Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Azienda Ospedaliera di Rilievo Nazionale dei Colli, 80131 Naples, Italy.
J Clin Med. 2024 Feb 14;13(4):1084. doi: 10.3390/jcm13041084.
: Few data are available on the risk of airway dysfunction in protease inhibitor (PI*) M heterozygotes carrying rare null or deficient allelic variants of the gene SERPINA-1 (PIMR). : In this observational study, in a cohort of PIMR heterozygotes, we evaluated respiratory functional parameters at baseline and at one-year follow-up. Moreover, we compared such parameters with those of the PIMZ and PIMS patients. : A total of 60 patients were recruited; 35 PIMR, 11 PIMZ and 14 PIMS. At the annual follow-up, the PIMR and PIMZ patients demonstrated a significantly higher FEV decline than the PIMS group ( = 0.04 and = 0.018, respectively). The PIMR patients showed a significant increase in DLCO annual decline in comparison with the PIMS group ( = 0.02). At baseline, the PIMR smoking patients, compared with nonsmokers, showed statistically significant lower values of FEV, FEV/FVC and DLCO ( = 0.0004, < 0.0001, = 0.007, respectively) and, at the one-year follow-up, they displayed a significantly higher FEV and DLCO decline ( = 0.0022, = 0.011, respectively). PIMR heterozygotes with COPD showed a significantly higher FEV, FEV/FVC and DLCO annual decline in comparison with healthy PIMR ( = 0.0083, = 0.043, = 0.041). : These results suggest that PIMR heterozygotes, particularly smokers with COPD, have a greater annual decline in respiratory functional parameters and need to be monitored.
关于携带罕见的无义或缺陷等位基因变体SERPINA - 1（PIMR）的蛋白酶抑制剂（PI）M杂合子气道功能障碍风险的数据很少。在这项观察性研究中，我们在一组PIMR杂合子队列中评估了基线和一年随访时的呼吸功能参数。此外，我们将这些参数与PIMZ和PIMS患者的参数进行了比较。共招募了60名患者；35名PIMR、11名PIMZ和14名PIMS。在年度随访中，PIMR和PIMZ患者的FEV下降幅度明显高于PIMS组（分别为P = 0.04和P = 0.018）。与PIMS组相比，PIMR患者的DLCO年度下降幅度显著增加（P = 0.02）。在基线时，PIMR吸烟患者与非吸烟者相比，FEV、FEV/FVC和DLCO值在统计学上显著较低（分别为P = 0.0004、P < 0.0001、P = 0.007），在一年随访时，他们的FEV和DLCO下降幅度明显更高（分别为P = 0.0022、P = 0.011）。患有慢性阻塞性肺疾病（COPD）的PIMR杂合子与健康的PIMR相比，FEV、FEV/FVC和DLCO的年度下降幅度明显更高（分别为P = 0.0083、P = 0.043、P = 0.041）。这些结果表明，PI*MR杂合子，尤其是患有COPD的吸烟者，呼吸功能参数的年度下降幅度更大，需要进行监测。
