Diagnosing cystic fibrosis in low- and middle-income countries: challenges and strategies.

Autor: Fuhrer M; Ion Channels and Channelopathies Laboratory, Institute for Biochemistry and Molecular Medicine, University of Bern, Bühlstrasse 28, Bern, CH-3012, Switzerland. michele.fuhrer@unibe.ch., Zampoli M; Department of Paediatrics and Child Health Division of Paediatric Pulmonology, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, Cape Town, South Africa., Abriel H; Ion Channels and Channelopathies Laboratory, Institute for Biochemistry and Molecular Medicine, University of Bern, Bühlstrasse 28, Bern, CH-3012, Switzerland. hugues.abriel@unibe.ch.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Dec 20; Vol. 19 (1), pp. 482. Date of Electronic Publication: 2024 Dec 20.
DOI: 10.1186/s13023-024-03506-1
Abstrakt: Background: Cystic Fibrosis is caused by recessively inherited variants of the cystic fibrosis transmembrane regulator. It is associated with diverse clinical presentations that can affect the respiratory, digestive, and reproductive systems and inhibit nutrient absorption and growth.
Main Body: The current estimation of people affected by Cystic Fibrosis is likely underestimated as this disease remains undiagnosed in countries with limited diagnostic capacity. Recent evidence indicates that Cystic Fibrosis is more common than initially thought and is likely underreported in low- and middle-income countries. The sweat chloride test remains the gold standard for diagnosing Cystic Fibrosis. However, the costs of commercially available instruments, consumables, and laboratory reagents remain relatively high for widespread implementation in low- and middle-income countries.
Conclusion: Alternative, cost-effective, and simpler approaches to sweat electrolyte measurement, may present more feasible options for CF diagnosis in the setting of low- and middle-income countries. Novel low-cost, point-of-care innovations for measuring sweat chloride should be explored and further validated as suitable alternatives. It will be important to consider how to implement these options and adjust the diagnostic algorithm to meet the needs of low- and middle-income countries. Future Cystic Fibrosis research in low- and middle-income countries should focus on finding a lower-cost and resource-intensive pathway for CF screening and diagnosis to improve its availability.
Competing Interests: Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests.
(© 2024. The Author(s).)
Databáze: MEDLINE
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