Rare Respiratory Diseases: A Personal and a Public Health Problem

Edited by
March 2022
242 pages
  • ISBN978-3-0365-3669-9 (Hardback)
  • ISBN978-3-0365-3670-5 (PDF)

This book is a reprint of the Special Issue Rare Respiratory Diseases: A Personal and a Public Health Problem that was published in

Medicine & Pharmacology
Public Health & Healthcare

Dear Colleagues,

A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases.

Prof. Dr. Francisco Dasí

Guest Editor

  • Hardback
© 2022 by the authors; CC BY-NC-ND license
standard diagnosis; reference centres; clinical presentation; cilia; primary ciliary dyskinesia; alpha-1 antitrypsin deficiency; primary ciliary dyskinesia; rare respiratory diseases; Mycobacterium avium; Mycobacterium intracellulare; nodular bronchiectasis; non-tuberculous mycobacteria; pulmonary aspergillosis; rare pulmonary disease; miRNA expression; exhaled breath condensate; sputum; severity; pulmonary exacerbation; alpha1 antitrypsin deficiency; augmentation therapy; replacement therapy; rare diseases; gene therapy; rare respiratory diseases; alpha-1-antitrypsin deficit; cystic fibrosis; primary ciliary dyskinesia; primary ciliary dyskinesia; neonatal respiratory distress; laterality defect; orphan diseases; cilia; primary ciliary dyskinesia; PCD; immunofluorescence; antibody; PCD; ALI culture; bio-resource; primary nasal epithelium; diagnostics; Alpha-1 antitrypsin deficiency; liver disease; glutamate-oxaloacetate transaminase; glutamate-pyruvate transaminase; gamma-glutamyl transpeptidase; resilience; active lifestyle; stress levels; infection control measure; self-quarantine; flow cytometry; rare respiratory diseases; nasal epithelium; oxidative stress; reactive oxygen species; oxidative stress; endoplasmic reticulum stress; antioxidant therapies; rare respiratory diseases; Alpha-1 antitrypsin deficiency; idiopathic pulmonary fibrosis; cystic fibrosis; primary ciliary dyskinesia; alpha1 antitrypsin deficiency; chronic obstructive pulmonary disease; bronchiectasis; asthma; emphysema; alpha1-antitrypsin deficiency; liver disease; transient elastography; n/a