ArticleJournal of clinical medicine2020
Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 13 citations in OpenAlex.
- Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency in an Elderly Patient.Diagnostics (Basel, Switzerland) · 2026Article
- Rare diseases in children-Knowledge, experiences and challenges faced by pediatricians in Tanzania.PLOS global public health · 2026Article
- The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry.Respiratory research · 2023Article
- Rare disease education in Europe and beyond: time to act.Orphanet journal of rare diseases · 2022Article
- Special Issue: Rare Respiratory Diseases: A Personal and Public Health Issue.Journal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) are underdiagnosed rare diseases showing a median diagnostic delay of five to ten years, which has negative effects on patient prognosis. Lack of awareness and education among healthcare professionals involved in the management of these patients have been suggested as possible causes. Our aim was to assess knowledge of these diseases among paediatricians and medical school students to determine which knowledge areas are most deficient. A survey was designed with questions testing fundamental aspects of the diagnosis and treatment of AATD and PCD. A score equal to or greater than 50% of the maximum score was set as the level necessary to ensure a good knowledge of both diseases. Our results indicate a profound lack of knowledge of rare respiratory diseases among paediatric professionals and medical students, suggesting that it is necessary to increase rare respiratory diseases training among all physicians responsible for suspecting and diagnosing them; this will allow early diagnosis and the setup of preventive measures and appropriate early-stage treatment. The first step in closing this knowledge gap could be to include relevant material in the medical syllabus.
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Registered trials
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