Bermudez Julien, Nathan Nadia, Coiffard Benjamin, Roux Antoine, Hirschi Sandrine, Degot Tristan, Bunel Vincent, Le Pavec Jérôme, Macey Julie, Le Borgne Aurélie, Legendre Marie, Cottin Vincent, Thomas Pascal-Alexandre, Borie Raphaël, Reynaud-Gaubert Martine
Department of Respiratory Medicine and Lung Transplantation, Assistance Publique - Hôpitaux de Marseille, Hôpital Nord; Aix-Marseille Université, Marseille, France.
Assistance Publique - Hôpitaux de Paris (APHP) - Sorbonne Université, Inserm Childhood Genetic Disorders and Reference Center for Rare Lung Diseases, Armand Trousseau Hospital, Paris, France.
ERJ Open Res. 2023 Nov 20;9(6). doi: 10.1183/23120541.00240-2023. eCollection 2023 Nov.
Interstitial lung disease associated with genetic disorders of the surfactant system is a rare entity in adults that can lead to lung transplantation. Our objective was to describe the outcome of these patients after lung transplantation.
We conducted a retrospective, multicentre study, on adults who underwent lung transplantation for such disease in the French lung transplant centres network, from 1997 to 2018.
20 patients carrying mutations in (n=5), (n=7) or (n=8) were included. Median interquartile range (IQR) age at diagnosis was 45 (40-48) years, and median (IQR) age at lung transplantation was 51 (45-54) years. Median overall survival after transplantation was 8.6 years. Two patients had a pre-transplant history of lung cancer, and two developed post-transplant lung cancer. Female gender and a body mass index <25 kg·m were significantly associated with a better prognosis, whereas transplantation in high emergency was associated with a worst prognosis.
Lung transplantation in adults with interstitial lung disease associated with genetic disorders of surfactant system may be a valid therapeutic option. Our data suggest that these patients may have a good prognosis. Immunosuppressive protocol was not changed for these patients, and close lung cancer screening is needed before and after transplantation.
与表面活性剂系统遗传疾病相关的间质性肺疾病在成人中是一种罕见疾病，可导致肺移植。我们的目的是描述这些患者肺移植后的结局。
我们对1997年至2018年在法国肺移植中心网络中因此类疾病接受肺移植的成人进行了一项回顾性多中心研究。
纳入了20例携带（n = 5）、（n = 7）或（n = 8）基因突变的患者。诊断时的年龄中位数（四分位间距[IQR]）为45（40 - 48）岁，肺移植时的年龄中位数（IQR）为51（45 - 54）岁。移植后的总生存中位数为8.6年。两名患者移植前有肺癌病史，两名患者移植后发生肺癌。女性性别和体重指数<25 kg·m²与较好的预后显著相关，而在高度紧急情况下进行移植与较差的预后相关。
对于与表面活性剂系统遗传疾病相关的间质性肺疾病成人患者，肺移植可能是一种有效的治疗选择。我们的数据表明这些患者可能有良好的预后。这些患者的免疫抑制方案未改变，移植前后均需要密切进行肺癌筛查。
