Skip to main content

Pulmonary Function in Rare Pulmonary Diseases

  • Chapter
  • First Online:
Pulmonary Function Measurement in Noninvasive Ventilatory Support
  • 826 Accesses

Abstract

Each year approximately 250 new diseases are discovered and are identified as rare diseases. Rare diseases usually have about 5% of a tendency to involve the pulmonary system. It can be said that although rare diseases sound to be uncommon as their prevalence in a given population is low, there is actually a large number of people who suffer from it.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

Abbreviations

CF:

Cystic fibrosis

CFTR:

Cystic fibrosis transmembrane conductance regulator

CT:

Computerized tomography

DLCO:

Diffuse lung capacity testing

ERV:

Expiratory reserve volume

FEV1:

Forced expiratory volume in 1 s

FRC:

Functional residual capacity

FVC:

Forced vital capacity

ICEP:

Idiopathic chronic eosinophilic pneumonia

IPF:

Idiopathic pulmonary fibrosis

IRV:

Inspiratory reserve volume

ISWT:

Incremental shuttle walk test

LAM:

Lymphangioleiomyomatosis

PAP:

Pulmonary alveolar proteinosis

PFT:

Pulmonary function tests

RV:

Residual volume

SMWT:

Six minute walk test

TV:

Tidal volume

VC:

Vital capacity

References

  1. Harari S. Why we should care about ultra-rare disease. Eur Respir Rev. 2016;25(140):101–3.

    Article  Google Scholar 

  2. Tentu AK, Singh S, Laxmivandana R, Singh SJ. Role of pulmonary function tests in the assessment of lung impairment in patients with diffuse parenchymal lung diseases: association with clinicoradiological-histopathological profile. J Clin Diagn Res. 2018;12(11)

    Google Scholar 

  3. Sylvester KP, Clayton N, Cliff I, Hepple M, Kendrick A, Kirkby J, et al. ARTP statement on pulmonary function testing 2020. BMJ Open Respir Res. 2020;7(1):e000575.

    Article  Google Scholar 

  4. Sauleda J, Núñez B, Sala E, Soriano JBJMS. Idiopathic pulmonary fibrosis: epidemiology, natural history, phenotypes. Med Sci. 2018;6(4):110.

    CAS  Google Scholar 

  5. du Bois RM, Weycker D, Albera C, Bradford W, Costabel U, Kartashov A, et al. Six-minute-walk test in idiopathic pulmonary fibrosis: test validation and minimal clinically important difference. 2011.

    Google Scholar 

  6. Taveira-DaSilva AM, Hedin C, Stylianou MP, Travis WD, Matsui K, Ferrans VJ, et al. Reversible airflow obstruction, proliferation of abnormal smooth muscle cells, and impairment of gas exchange as predictors of outcome in lymphangioleiomyomatosis. Am J Respir Crit Care Med. 2001;164(6):1072–6.

    Article  CAS  Google Scholar 

  7. Taveira-DaSilva AM, Pacheco-Rodriguez G, Moss J. The natural history of lymphangioleiomyomatosis: markers of severity, rate of progression and prognosis. Lymphat Res Biol. 2010;8(1):9–19.

    Article  CAS  Google Scholar 

  8. Riley L, Wang T, Ataya A. Pulmonary alveolar proteinosis (PAP). Am J Respir Crit Care Med. 2019;200(8):P16–P7.

    Article  Google Scholar 

  9. Crowe M, Robinson D, Sagar M, Chen L, Ghamande S. Chronic eosinophilic pneumonia: clinical perspectives. Ther Clin Risk Manag. 2019;15:397.

    Article  CAS  Google Scholar 

  10. Ratjen F, Bell S, Rowe S, Goss C, Quittner A, Bush A. Cystic fibrosis. JNRDP. 2015;1:15010.

    Google Scholar 

  11. Saglam M, Vardar-Yagli N, Savci S, Inal-Ince D, Aribas Z, Bosnak-Guclu M, et al. Six minute walk test versus incremental shuttle walk test in cystic fibrosis. Pediatr Int. 2016;58(9):887–93.

    Article  Google Scholar 

  12. Stoller JK, Hupertz V, Aboussouan LS. Alpha-1 antitrypsin deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, LJH B, Stephens K, et al., editors. GeneReviews(®). Seattle, WA: University of Washington, Seattle. Copyright © 1993–2020, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2021 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Alpay, N. (2021). Pulmonary Function in Rare Pulmonary Diseases. In: Esquinas, A.M. (eds) Pulmonary Function Measurement in Noninvasive Ventilatory Support. Springer, Cham. https://doi.org/10.1007/978-3-030-76197-4_12

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-76197-4_12

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-76196-7

  • Online ISBN: 978-3-030-76197-4

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics