caa a22 4500 477069290 CHVBK 20180405111420.0 cr unu---uuuuu 170330e19960301xx s 000 0 eng 10.1007/BF02845243 doi (NATIONALLICENCE)springer-10.1007/BF02845243 Cystic fibrosis-an Indian perspective on recent advances in diagnosis and management [Elektronische Daten] [S. Kabra, Madhulika Kabra, M. Ghosh, I. Verma] Cystic fibrosis (CF) is a common inherited disorder in caucasians. The estimated incidence of CF in Asians varies from 1∶10,000 to 1∶12,000. Indian data is restricted to faw case reports. The gene for CF is located on the long arm of chromosome 7 at position 7q13. There are more than 300 identified mutations in CF. The basic defect in CF is a mutational change in the gene for chloride conductance channel. Failure of chloride conductance by epithelial cells leads to dehydration of secretions that are too viscid and difficult to clear. The disease is characterized by abnormal secretions in the respiratory, gastrointestinal and reproductive tract and sweat glands. The common clinical manifestations include meconium ileus in neonatal period, recurrent lower respiratory tract infections (pseudomonas pneumonia, bronchiectasis), steatorrhoea, azoospermia, and in late stages hepatobiliary and endocrine pancreatic dysfunctions. The diagnosis of disease is established by clinical criteria and sweat chloride concentration more than 60 mEq/L. Facilities for DNA diagnosis of common CF mutations are now available in India. The treatment of CF includes early diagnosis, daily clearance of respiratory passages, appropriate antibiotic therapy, aerosolised recombinant human DNase and antibiotics, and nutritional supplementation. The latter include changes in diet composition, pancreatic enzyme supplementation and vitamins and trace mineral supplementation. Gene therapy for the pulmonary manifestations is being tried in a number of centres abroad. Other considerations include heart lung transplantation and ameloride inhalation therapy. Dr. K C Chaudhuri Foundation, 1996 Cystic fibrosis nationallicence Fibrocystic disease nationallicence Molecular diagnosis nationallicence Kabra S. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut Kabra Madhulika Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut Ghosh M. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut Verma I. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut The Indian Journal of Pediatrics Springer India 63/2(1996-03-01), 189-198 0019-5456 63:2<189 1996 63 12098 https://doi.org/10.1007/BF02845243 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF02845243 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kabra S. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut NATIONALLICENCE 700 1- Kabra Madhulika Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut NATIONALLICENCE 700 1- Ghosh M. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut NATIONALLICENCE 700 1- Verma I. Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, 110 0029, New Delhi aut NATIONALLICENCE 773 0- The Indian Journal of Pediatrics Springer India 63/2(1996-03-01), 189-198 0019-5456 63:2<189 1996 63 12098 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer