Center for Interstitial and Rare Lung Diseases, Thoraxklinik, University of Heidelberg, German Center for Lung Research (DZL), ERN-LUNG, Heidelberg, Germany.
National Reference Centre for Rare Pulmonary Diseases, Louis Pradel Hospital, Hospices Civils de Lyon, UMR 754, Claude Bernard University Lyon 1, ERN-LUNG, Lyon, France.
Eur Respir Rev. 2023 Feb 7;32(167). doi: 10.1183/16000617.0161-2022. Print 2023 Mar 31.
The world of rare interstitial lung diseases (ILDs) is diverse and complex. Diagnosis and therapy usually pose challenges. This review describes a selection of rare and ultrarare ILDs including pulmonary alveolar proteinosis, pulmonary alveolar microlithiasis and pleuroparenchymal fibroelastosis. In addition, monogenic ILDs or ILDs in congenital syndromes and various multiple cystic lung diseases will be discussed. All these conditions are part of the scope of the European Reference Network on rare respiratory diseases (ERN-LUNG). Epidemiology, pathogenesis, diagnostics and treatment of each disease are presented.
罕见间质性肺疾病（ILDs）的世界是多样且复杂的。诊断和治疗通常具有挑战性。本综述描述了一系列罕见和极罕见的ILD，包括肺泡蛋白沉积症、肺泡微石症和胸膜肺弹力纤维增生症。此外，还将讨论单基因ILD 或先天性综合征中的ILD 以及各种多发囊性肺疾病。所有这些疾病都是欧洲罕见呼吸系统疾病参考网络（ERN-LUNG）的研究范围。本文介绍了每种疾病的流行病学、发病机制、诊断和治疗。
