title: Genetic interstitial lung disease.
abstract: The interstitial lung diseases (ILDs), or diffuse parenchymal lung diseases, are a heterogeneous collection of more than 100 different pulmonary disorders that affect the tissue and spaces surrounding the alveoli. Patients affected by ILD usually present with shortness of breath or cough; for many, there is evidence of pulmonary restriction, decreased diffusion capacity, and radiographic appearance of alveolar and/or reticulonodular infiltrates. This article reviews the inherited ILDs, with a focus on the diseases that may be seen by pulmonologists caring for adult patients. The authors conclude by briefly discussing the utility of genetic testing in this population.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390-8591, USA.
authors.forename: Megan Stuebner
authors.initials: MS
authors.lastname: Devine
authors.forename: Christine Kim
authors.initials: CK
authors.lastname: Garcia
mesh_terms: D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D054643:INDEL Mutation; D007680:Kidney Neoplasms / Q000235:genetics; D008171:Lung Diseases / Q000235:genetics; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D009154:Mutation; D010375:Pedigree; D011030:Pneumothorax / Q000209:etiology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011649:Pulmonary Alveolar Proteinosis / Q000235:genetics; D011658:Pulmonary Fibrosis / Q000235:genetics; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency / Q000235:genetics; D037721:Pulmonary Surfactant-Associated Protein C / Q000172:deficiency / Q000235:genetics; D012313:RNA / Q000235:genetics; D011859:Radiography; D012008:Recurrence; D017565:Sarcoidosis, Pulmonary / Q000235:genetics; D035781:Siblings; D019098:Telomerase / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C; D025521:Tumor Suppressor Proteins; C422952:telomerase RNA; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase