Papiris Spyros A, Kannengiesser Caroline, Borie Raphael, Kolilekas Lykourgos, Kallieri Maria, Apollonatou Vasiliki, Ba Ibrahima, Nathan Nadia, Bush Andrew, Griese Matthias, Dieude Philippe, Crestani Bruno, Manali Effrosyni D
2nd Pulmonary Medicine Department, General University Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, 12462 Athens, Greece.
Département de Génétique, APHP Hôpital Bichat, Université de Paris, 75018 Paris, France.
Diagnostics (Basel). 2022 Nov 23;12(12):2928. doi: 10.3390/diagnostics12122928.
Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis.
The aim of the present study is to overview the clinical significance of genetics in IPF.
It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a "a sporadic entity of the elderly, limited to the lungs" and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and "faces" in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure.
By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing.
在相当一部分散发性和家族性特发性肺纤维化（IPF）患者中解析遗传背景，为肺纤维化的致病途径提供了新的见解。
本研究旨在概述遗传学在IPF中的临床意义。
认识到遗传学对这种毁灭性疾病的病理生理学、准确早期诊断、治疗和预防等方面迄今被低估但却在动态增加的影响，令人着迷。IPF中的遗传学在将该疾病从“老年人的散发性疾病，局限于肺部”的教条中解放出来方面发挥了独特作用，使全世界所有科学家，尤其是临床医生，能够在所有年龄组中考虑其诸多方面和“面貌”，包括其与从皮肤白化病到骨髓和肝功能衰竭等多种肺外疾病的共存情况。
遗传学通过为免疫缺陷、黏液及表面活性剂受损和端粒维持等常通过同一患者中常见和罕见遗传变异相互作用而共存的未被怀疑的特征提供额外证据，创建了一个丰富、多元且统一的平台，这可能有助于理解许多看似无关的外在和内在致病因素的损伤和促纤维化作用。同一平台也不断让我们认识到自身的局限性以及仍然缺失的遗传性、知识和智慧。
