New insights in lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis

作者：Olga Torre, Davide Elia, Antonella Caminati, Sergio Harari · 发表于：European Respiratory Review · 年份：2017 · DOI：10.1183/16000617.0042-2017 · 被引用次数：40 · 研究领域：Tuberous Sclerosis Complex Research、Histiocytic Disorders and Treatments、Genetic and Kidney Cyst Diseases

Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are rare diseases that lead to progressive cystic destruction of the lungs. Despite their distinctive characteristics, these diseases share several features. Patients affected by LAM or PLCH have similar radiological cystic patterns, a similar age of onset, and the possibility of extrapulmonary involvement. In this review, the recent advances in the understanding of the molecular pathogenesis, as well as the current and most promising biomarkers and therapeutic approaches, are described.