ABSTRACT
Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and clinical features, together with extrapulmonary manifestations, when present, permits confident and accurate diagnosis of the majority of these diseases without recourse to open-lung biopsy. The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed. Disease progression is unpredictable, and understanding of the complications of cystic lung disease and their appearance during evolution of the disease are essential for management. Correlation of disease evolution and clinical context with chest imaging findings provides important clues for defining the underlying nature of cystic lung disease, and guides diagnostic evaluation and management.
Subject(s)
Amyloidosis , Birt-Hogg-Dube Syndrome , Histiocytosis, Langerhans-Cell , Lung Neoplasms , Lymphangioleiomyomatosis , Pneumonia, Pneumocystis , Adult , Amyloidosis/diagnosis , Amyloidosis/epidemiology , Amyloidosis/therapy , Biopsy , Birt-Hogg-Dube Syndrome/diagnosis , Birt-Hogg-Dube Syndrome/epidemiology , Birt-Hogg-Dube Syndrome/therapy , Diagnosis, Differential , Disease Progression , Female , Histiocytosis, Langerhans-Cell/diagnosis , Histiocytosis, Langerhans-Cell/epidemiology , Histiocytosis, Langerhans-Cell/therapy , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/epidemiology , Lung Neoplasms/therapy , Lymphangioleiomyomatosis/diagnosis , Lymphangioleiomyomatosis/epidemiology , Lymphangioleiomyomatosis/therapy , Male , Pneumonia, Pneumocystis/diagnosis , Pneumonia, Pneumocystis/epidemiology , Pneumonia, Pneumocystis/therapy , Predictive Value of Tests , Prognosis , Risk Factors , Tomography, X-Ray ComputedABSTRACT
Pulmonary alveolar microlithiasis (PAM) is a rare genetic lung disease characterized by calcifications within the alveoli. Mutations in the SLC34A2 gene, which encodes a type IIb sodium-phosphate cotransporter, are responsible for this disease, leading to intra-alveolar accumulation of phosphate that favors the formation of microliths. The hallmark of this disorder is clinical-radiological dissociation, with typical imaging findings that correlate well with specific pathological findings. The long-term prognosis is poor and no treatment has been discovered to date. The aim of this review is to describe the main pathological, clinical, and imaging aspects of PAM, ranging from its genetic basis to treatment.
