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Malnutrition in Cystic Fibrosis in India: Pandora's box

Pramila Menon, Puja Dudeja, Phadke M A

This is a study conducted with aim to evaluate clinical profile and molecular diagnosis of suspected cystic fibrosis (CF) in Maharashtra, India over a period of two years from January 2012 to December 2014 in the Genetic laboratory of Maharashtra University of Health Sciences (MUHS), Regional Centre Pune. All were tested for DF508 at our laboratory followed by 5 mutational analyses (N1303K, G551D, G542X, 621+1(GT), R553X) at Hinduja Laboratory Mumbai. Our study showed median age group 3.02 year (38 months), recurrent respiratory infection/pneumonia 61.5%,Chronic diarrhea 26.9% with steatorrhea in 7.7%,meconium ileus 11.4%,intestinal obstruction in 15.3 %, CF was diagnosed in 11.4% high risk cases based on sweat chloride test but with ARMS PCR test only 3.8% showed the ΔF508 (homozygous), family history of suggestive of CF with death was present in 3.8%, consanguinity was seen in 6 (23% ) patients, clubbing in 3.8%, Malnutrition in 34.6%, Staphylococcus aureus colonization in 3.8%, pseudomonas aeruginosa in 3.8%, Ultrasonography findings of our patients showed hyperechogenicity of liver, hepatomegaly and abdominal calcification in 7.6% . Conclusion: As this is a small clinical study, possibility of missing other CF mutations in Indian population cannot be rule out. We suggest extensive molecular analysis of CF in Indian population may throw light on molecular profile of CF patients which will help in genetic counseling and prenatal diagnosis.