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- Title
Diagnosis and treatment of cystic fibrosis in India: What is at stake for developing countries?
- Authors
Purushothaman, Anand Kumar; Natarajan, Srikanth; Panigrahi, Trailokyanath; Nelson, Everette Jacob Remington
- Abstract
Cystic fibrosis (CF) is a life-threatening monogenic disease affecting thousands of people worldwide. Cystic fibrosis transmembrane conductance regulator (CFTR) is an ion channel that facilitates transportation of water and salts across epithelial cell membranes through the conductance of Cl− and other anions. A dysfunctional CFTR due to abnormalities in the cftr gene causes CF, which is believed to be a rare disease in India mainly due to mis/underdiagnosis. Although numerous diagnostic methods and treatment options are available for CF globally, most of these are unaffordable for developing countries like India. Currently, CF symptoms are managed with mucolytics, antibiotics, anti-inflammatory drugs, and various CFTR modulators based on the type of defect. While a definitive cure for CF remains elusive, advancements in stem cell and gene therapies hold promise for permanent cure in the near future. In this review, we discuss the prevalence of CF cases in India, affordable diagnostic methods, and treatment options amenable for developing countries. We further emphasize the scope for the universal newborn screening programme.
- Subjects
INDIA; DEVELOPING countries; CYSTIC fibrosis transmembrane conductance regulator; CYSTIC fibrosis; ION channels; CELL membranes; DIAGNOSIS
- Publication
Journal of Biosciences, 2024, Vol 49, Issue 3, p1
- ISSN
0250-5991
- Publication type
Article
- DOI
10.1007/s12038-024-00456-5