Genetic interstitial lung disease

Clin Chest Med. 2012 Mar;33(1):95-110. doi: 10.1016/j.ccm.2011.11.001. Epub 2011 Dec 6.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Birt-Hogg-Dube Syndrome / genetics*
  • Calcinosis / genetics
  • Female
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, X-Linked / genetics
  • Heterozygote
  • Humans
  • INDEL Mutation
  • Kidney Neoplasms / genetics
  • Lung Diseases / genetics
  • Lung Diseases, Interstitial / complications
  • Lung Diseases, Interstitial / diagnostic imaging
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / pathology
  • Lung Diseases, Interstitial / therapy
  • Mutation*
  • Pedigree
  • Pneumothorax / etiology
  • Proto-Oncogene Proteins / genetics
  • Pulmonary Alveolar Proteinosis / genetics
  • Pulmonary Fibrosis / genetics
  • Pulmonary Surfactant-Associated Protein B / deficiency
  • Pulmonary Surfactant-Associated Protein B / genetics
  • Pulmonary Surfactant-Associated Protein C / deficiency
  • Pulmonary Surfactant-Associated Protein C / genetics
  • RNA / genetics
  • Radiography
  • Recurrence
  • Sarcoidosis, Pulmonary / genetics
  • Siblings
  • Telomerase / genetics
  • Tumor Suppressor Proteins / genetics

Substances

  • FLCN protein, human
  • Proto-Oncogene Proteins
  • Pulmonary Surfactant-Associated Protein B
  • Pulmonary Surfactant-Associated Protein C
  • Tumor Suppressor Proteins
  • telomerase RNA
  • RNA
  • TERT protein, human
  • Telomerase

Supplementary concepts

  • Pulmonary Alveolar Microlithiasis
  • Surfactant Metabolism Dysfunction, Pulmonary, 1
  • Surfactant Metabolism Dysfunction, Pulmonary, 2
  • Surfactant Metabolism Dysfunction, Pulmonary, 3
  • Surfactant Metabolism Dysfunction, Pulmonary, 4