ArticleRespirology case reports2025
Novel Co-Occurrence of Trisomy 21 and Heterozygous CFTR Mutation.
Article in Respirology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The coexistence of trisomy 21 and cystic fibrosis (CF) is extremely rare, with fewer than 10 reported cases, all involving homozygous CFTR mutations. However, the impact of a heterozygous CFTR mutation in a patient with trisomy 21 remains unexplored. We present a male infant with trisomy 21 who experienced recurrent respiratory distress and was later found to carry a heterozygous pathogenic CFTR mutation (p.Phe508del). His respiratory complications were severe, requiring tracheostomy and long-term respiratory support. This case highlights the potential interplay between trisomy 21-associated anatomical features and CFTR-related airway abnormalities, possibly exacerbating respiratory morbidity. Given the high burden of respiratory complications in both conditions, clinicians should consider CFTR-related disorders in patients with trisomy 21 presenting with severe respiratory issues. Further research is warranted to determine the clinical significance of CFTR heterozygosity in trisomy 21 and its implications for disease severity and management.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.