Kabra, S KKabra, MadhulikaLodha, RakeshShastri, SGhosh, MPandey, R MKapil, ArtiAggarwal, GunjanKapoor, Vishal2003-07-262009-05-272003-07-262009-05-272003-07-26Kabra SK, Kabra M, Lodha R, Shastri S, Ghosh M, Pandey RM, Kapil A, Aggarwal G, Kapoor V. Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis. Indian Pediatrics. 2003 Jul; 40(7): 612-9http://imsear.searo.who.int/handle/123456789/13404OBJECTIVE: To document clinical profile of cystic fibrosis (CF) in Indian children and the prevalence of delta F508 mutation in these patients. DESIGN: Observational study. Setting:Pediatric chest clinic in an urban tertiary care center in north India. PERIOD OF STUDY: July 1995 to June 2002. METHODS: Clinical features of 120 children diagnosed as CF by quantitative pilocarpine iontophoresis were recorded. A polymerase chain reaction based test for identification of delta F 508 mutation was performed on all children. RESULTS: Out of 3500 new cases registered in Pediatric Chest Clinic during this period 120, (3.5%) children were diagnosed as CF. Origin of parents of patients traced from almost all the States of north India. Family history suggestive of CF was present in 41 (34%) and consanguinity in 19 (61%) patients. Common clinical manifestations at the time of presentation included recurrent or persistent pneumonia in 118 (98%), failure to thrive in 108 (90%), malabsorption in 96 (80%), history of meconium ileus in 10 (8%), and rectal prolapse was present in 16 (13%). History of salt craving, salty taste on kissing and skin rashes was present in 5 patients each. 49(41%) patients were severely malnourished. Nasal polyposis was present in 5 (4%) patients. Examination of chest revealed evidence of hyperinflation in 100 (83%), kyphosis 20 (17%), crepitations 110 (92%), wheezing 40 (25%) and bronchial breathing in 20 (17%) patients. Average clinical CF scores were 51 (95%; CI 20-80). 48 (40%) patients had a CF score of LT40. Pseudomonas spp was cultured from respiratory secretions of 51 (42%), Staphylococcus spp in 18 (15%), Klebsiella spp in 8 (7%) and Hemophilus influenzae in 2 (2%) patients. Delta F508 mutation was positive in 45 chromosomes out of 240 tested. Patients originated from Pakistan had more frequency of delta F508 mutations. CONCLUSIONS: Cystic fibrosis does occur in Indian children; clinical features are classical. Diagnosis is often delayed and the disease is advanced in most patients at the time of diagnosis. Frequency of Delta F508 mutation is 19% i.e., less than that seen in Caucasian population. There is need to create awareness about occurrence of CF in Indian children.engChildChild, PreschoolCystic Fibrosis --geneticsFemaleGene Frequency --geneticsHumansIndiaInfantMaleMutation --geneticsTerminal Repeat Sequences --geneticsJournal Article