Cystic Fibrosis Scenario in India

Abstract

Abnormal transport of chloride ion in the epithelial cells is caused by a autosomal recessive monogenic condition known as cystic fibrosis (CF). It belongs to the rare genetic disease in India. Persistent coughing with phlegm, pneumonia, bronchitis, bulky stool and hard bowl movement are most symptoms of the disease. Mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene present on chromosome 7 having 230 kb nucleotides with 23 exons leads to development of disease. Determination of sweat electrolyte is considered as optimal diagnostic method. Results of previous studies have shown that cystic fibrosis increase the sodium and chloride concentrations. Mutations like ΔF508, G542X, R553X, N130K and 621+1 (G →T) are most common in CF patients in India. Among them ΔF508 is most severe and predominant mutation. Reports have shown as high as 56% frequency of ΔF508 in Indian patients. CF can be treated with anti-inflammatory drugs, CFTR modulators and combination therapies. Early screening can be an effective strategy for early diagnosis and treatment of cystic fibrosis.