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.
Copyright © 2012 Elsevier Inc. All rights reserved.
MeSH terms
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Adult
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Birt-Hogg-Dube Syndrome / genetics*
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Calcinosis / genetics
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Female
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Genetic Diseases, Inborn / complications
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Genetic Diseases, Inborn / genetics*
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Genetic Diseases, X-Linked / genetics
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Heterozygote
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Humans
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INDEL Mutation
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Kidney Neoplasms / genetics
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Lung Diseases / genetics
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Lung Diseases, Interstitial / complications
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Lung Diseases, Interstitial / diagnostic imaging
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Lung Diseases, Interstitial / genetics*
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Lung Diseases, Interstitial / pathology
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Lung Diseases, Interstitial / therapy
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Mutation*
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Pedigree
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Pneumothorax / etiology
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Proto-Oncogene Proteins / genetics
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Pulmonary Alveolar Proteinosis / genetics
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Pulmonary Fibrosis / genetics
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Pulmonary Surfactant-Associated Protein B / deficiency
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Pulmonary Surfactant-Associated Protein B / genetics
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Pulmonary Surfactant-Associated Protein C / deficiency
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Pulmonary Surfactant-Associated Protein C / genetics
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RNA / genetics
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Radiography
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Recurrence
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Sarcoidosis, Pulmonary / genetics
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Siblings
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Telomerase / genetics
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Tumor Suppressor Proteins / genetics
Substances
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FLCN protein, human
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Proto-Oncogene Proteins
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Pulmonary Surfactant-Associated Protein B
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Pulmonary Surfactant-Associated Protein C
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Tumor Suppressor Proteins
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telomerase RNA
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RNA
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TERT protein, human
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Telomerase
Supplementary concepts
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Pulmonary Alveolar Microlithiasis
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Surfactant Metabolism Dysfunction, Pulmonary, 1
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Surfactant Metabolism Dysfunction, Pulmonary, 2
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Surfactant Metabolism Dysfunction, Pulmonary, 3
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Surfactant Metabolism Dysfunction, Pulmonary, 4