Cystic fibrosis in India

Pediatric Pulmonology

Volumn 42, Issue 12, 2007, Pages 1087-1094

  Kabra, S K ^a   Kabra, M ^a   Lodha, R ^a   Shastri, S ^a  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Cystic fibrosis; Developing countries; India

Indexed keywords

ANTIBIOTIC AGENT; CHLORIDE; MUCOLYTIC AGENT;

ASIAN; BACTERIAL COLONIZATION; BARTTER SYNDROME; CLINICAL FEATURE; CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; DRUG COST; GENETIC ANALYSIS; GENOTYPE; HEALTH CARE COST; HUMAN; INDIA; LABORATORY TEST; LOWER RESPIRATORY TRACT INFECTION; MALNUTRITION; MANPOWER; MORBIDITY; MUTATION; ONSET AGE; PEDIATRICIAN; PRIORITY JOURNAL; PROGNOSIS; PSEUDOMONAS; REVIEW; SWEAT TEST; VITAMIN DEFICIENCY;

COMBINED MODALITY THERAPY; CYSTIC FIBROSIS; HUMANS; INCIDENCE; INDIA; MOLECULAR DIAGNOSTIC TECHNIQUES; PROGNOSIS;

EID: 36849030759     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.20677     Document Type: Review

References (69)

1. Davis PB. Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006;173:475-482.
2. Dodge JA, Morison S, Lewis PA, Coles EC, Geddes D, Russell G, Littlewood JM, Scott MT. Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. UK Cystic Fibrosis Survey Management Committee. Arch Dis Child 1997;77:493-496.
3. Hamosh A, Fitz Simmons SC, Macek M, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and whites. J Pediatr 1998;132:255-257.
4. Fitz Simmons S, The changing epidemiology of cystic fibrosis. J Pediatr 1993;122:1-9.
5. Bhakoo ON, Kumar R, Walia BNS. Mucoviscidosis of lungs. Indian J Pediatr 1968;35:183-185.
6. Mehta S, Wadhwa UN, Mehta SK, Chhutani PN. Fibrocystic disease of pancreas in India. Indian Pediatr 1968;5:185-191.
7. Kabra SK, Kabra M, Cystoc fibrosis in India. Nat Med J India 2003;16:291-293.
8. Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Arch Pediatr Adolesc Med 1996; 150:554-555.
9. Goodchilds MC, Insley J, Rustom DI, Gaze H. Cystic fibrosis in 3 Pakistani children. Arch Dis Child 1974;49:739-741.
10. Bowler IM, Estelin EJ, Littlewood JM. Cystic fibrosis in Asians. Arch Dis Child 1993;68:120-122.
11. Kapoor V, Shastri SS, Kabra M, Kabra SK, Ramachandran V, Arora S, Balakrishnan P, Deorari AK, Paul VK. Carrier frequency of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibros 2006;5:43-46.
12. Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH. Cystic fibrosis in children from ethnic minorities in the West Midlands. Respir Med 1994;88:671-675.
13. Mehta S, Ansari Z, Wadhwa UN, Walia BNS. Fibrocystic disease of pancreas. Indian Pediatr 1969;6:114-117.
14. Devi SC, Rao NR, Ramaiah Y. Cystic fibrosis of pancreas in adults a report of 4 cases. Indian J Chest Dis 1969;11:163-167.
15. Gupte S, Mehta S. Chronic diarrhea: An etiological study. Indian Pediatr 1970;7:625-631.
16. Reddy CRRM, Devi SC, Anees AM, Murthy DP, Reddy GE. Cystic fibrosis of pancreas in India. J Trop Med Hyg 1970;73:59-62.
17. Venkatraman G, Kousalya L, Reddy CRRM. Cystic fibrosis of pancreas. Indian J Pediatr 1972;39:337-339.
18. Jagdish JS. Cystic fibrosis of the lungs. Indian J Pediatr 1989;56:288-290.
19. Sarkar AK, Bag SK, Biswas SK, Saha SG. Acro-osteolysis of phalanges in a case of cystic fibrosis. Indian J Pediatr 1992;59:336-339.
20. Maya PP, Hill PG, Sudarsanam D, Jadhav MT. Cystic fibrosis in south India. Trop Geogr Med 1980;32:45-49.
21. Prasad ML, Misra A, Mathur M, Gupta DK. Cystic fibrosis postmortem report of two cases. Indian Pediatr 1990;27:493-496.
22. Deivanayagam CN, Venogupalan K, Mallikensan S, Madhavan K, Muthukumara-swamy N. Clinical profile of cystic fibrosis in South India. Lung India 1990;8:167-172.
23. Kabra SK, Kabra M, Lodha R, Shastri S, Ghosh M, Pandey RM. et al. Clinical profile and frequency of delta F 508 mutation in Indian children with cystic fibrosis. Indian Pediatr 2003;40:612-619.
24. Ashavaid TF, Kondkar AA, Dherai AJ, Raghavan R, Udani SV, Udwadia ZF, Desai D. Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients. Mol Diagn 2005;9:59-66.
25. Singh M, Prasad R, Kumar L. Cystic fibrosis in north Indian children. Indian J Pediatr 2002;69:627-629.
26. Al-Mahroos F. Cystic fibrosis in Bahrain, incidence, phenotype and outcome. J Trop Pediatr 1998;44:35-39.
27. Shah U, Moatter T, Bhutta ZA. Profile and factors determining outcome in a cohort of cystic fibrosis patients seen at the Aga Khan University Hospital, Karachi, Pakistan. J Trop Pediatr 2006;52:132-135.
28. el-Harith E, Dörk T, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller KM, Lentze MJ, Schmidtke J. Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet 1997;34:996-999.
29. Dawson KP, Frossard PM. Cystic fibrosis in the Middle East: The historical perspective. Ann Saudi Med 2000;20:20-23.
30. Norzila MZ, Norrashidah AW, Rusanida A, Chan PW, Azizi BH. Cystic fibrosis in Malaysian children. Med J Malaysia 2005;60:54-61.
31. Chen HJ, Lin SP, Lee HC, Chen CP, Chiu NC, Hung HY, Chern SR, Chuang CK. Cystic fibrosis with homozygous R553X mutation in a Taiwanese child. J Hum Genet 2005;50:674-678.
32. Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI. Cystic fibrosis in Korean children: A case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005;20:153-157.
33. Suwanjutha S, Huang NN, Wattanasirichaigoon D, Sura T, Harris A, Macek M Jr. Case report of a Thai male cystic fibrosis patient with the 1898+ 1G → T splicing mutation in the CFTR gene: A review of East Asian cases. Mutations in brief no. 19. Online Hum Mutat 1998;12:361.
34. Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y. A Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis. Clin Genet 1999;56:173-175.
35. Mei-Zahav M, Durie P, Zielenski J, Solomon M, Tullis E, Tsui LC, Corey M. The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants. Arch Dis Child 2005;90:675-679.
36. Karem B, Rommens JN, Bichnan JA. et al. Identification of cystic fibrosis gene: Genetic analysis. Science 1989;245:1673-1680.
37. Riordan JR, Rommens JM, Buchanan JA. et al. Identification of cystic fibrosis gene. Genetic Anal Sci 1989;245:1066-1073.
38. Cystic Fibrosis Mutation Database http://www.genet.sickkids.on.ca/cftr/ StatisticsPage.html accessed on January 2, 2007.
39. Frizzel RA. Functions of cystic fibrosis transmembrane conductance regulatory protein. Am J Respir Crit Care Med 1995;S54-S58.
40. Wilmott RW. Making the diagnosis of cystic fibrosis. J Pediatr 1998;132:563-565.
41. Schwartz MJ, Super M, Wallis C, Beighton P, Newton C, Heptisstall LE. et al. Delta F 508 testing of the DNA bank of the Royal Manchester Children's Hospital. Human Genet 1990;85:428-430.
42. Kabra M, Kabra SK, Ghosh M, Khanna A, Arora S, Menon PS. et al. Is the spectrum of mutations in Indian patients with cystic fibrosis different? Am J Med Genet 2000;93:161-163.
43. Kabra M, Ghosh M, Kabra SK, Khanna A, Verma IC, Delta F. 508 molecular mutation in Indian children with cystic fibrosis. Indian J Med Res 1996;104:355-358.
44. Ashavaid TF, Dherai AJ, Kondkar AA, Raghavan R, Udani SV, Udwadia ZF, Desai D. Molecular diagnosis of cystic fibrosis in Indian patients - A preliminary report. J Assoc Physicians India 2003;51:345-348.
45. Bhutta ZA, Moattar T, Shah U. Genetic analysis of cystic fibrosis in Pakistan: A preliminary report. J Pak Med Assoc 2000;50:217-219.
46. Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PSN. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India. J Cystic Fibrosis (in press).
47. Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M. Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296 + 12(T > C), 1161delC and 621 + 2(T > C). Hum Mutat 1998;11:152-157.
48. McCormick J, Green MW, Mehta G, Culross F, Mehta A. Demographics of the UK cystic fibrosis population: Implications for neonatal screening. Eur J Hum Genet 2002;10:583-590.
49. Mei-Zahav M, Solomon M, Kawamura A, Coates A, Durie P. Cystic fibrosis presenting as kwashiorkor in a Sri Lankan infant. Arch Dis Child 2003;88:724-725.
50. Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. Cystic fibrosis in Lebanon: Distribution of CFTR mutation among Arab communities. Hum Genet 1997;100:279-283.
51. Frossard PM, Girodon E, Dawson KP, Ghanem N, Plassa F, Lestringant GG, Goossens M. Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online Hum Mutat 1998;11:412-413.
52. Seki K, Abo W, Yamamoto Y, Matsuura A. Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis. Tohoku J Exp Med 1999;187:323-328.
53. Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I. Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 1999;19:69-73.
54. Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M. Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V). J Trop Pediatr 2001;47:110-112.
55. Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr 2002;48:348-350.
56. Schrijver I, Karnsakul W, Limwongse C, Ramalingam S, Sankaran R, Gardner P, Moss R. Novel contributions to the Asian CFTR mutation spectrum: Genotype and phenotype in Thai patients with cystic fibrosis. Am J Med Genet A 2005;133:103-105.
57. Koh WJ, Ki CS, Kim JW, Kim JH, Lim SY. Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene. J Korean Med Sci 2006;21:563-566.
58. Teeratakulpisarn J, Kosuwon P, Srinakarin J, Panthongviriyakul C, Sutra S. Cystic fibrosis in three northeast Thai infants is CF really a rare disease in the Thai population? J Med Assoc Thai 2006;89:1756-1761.
59. McCormick J, Ogston SA, Sims EJ, Mehta A. Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous delta F508 controls. J Cyst Fibros 2005;4:53-58.
60. Shwachman H. Cystic fibrosis. In: Kendig EL, Chernick V, editors. Disorders of respiratory tract in children. 4th edition London: WB Sounders; 1983. pp 640-661.
61. Ansari EA, Sahni K, Etherington C, Morton A, Conway SP, Moya E, Littlewood JM. Ocular signs and symptoms and vitamin A status in patients with cystic fibrosis treated with daily vitamin A supplements. Br J Ophthalmol 1999;83:688-691.
62. Feldon K, Bahl S, Bhatnagar P, Wenger J. Severe vitamin A deficiency in India during pulse polio immunization. Indian J Med Res 2005;122:265-267.
63. Agarwal G, Kapil A, Kabra SK, Chandra R, Das B, Diwedi SN. Phenotypic & genotypic variants of Pseudomonas aeruginosa isolated from children with cystic fibrosis in India. Indian J Med Res 2002;116:73-81.
64. Gan KH, Geus WP, Bakker W, Lamers CB. Heijerman HGGenetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years. Thorax 1995;50:1301-1304.
65. Le Grys VA. Sweat testing for diagnosis of cystic fibrosis practical considerations. J Pediatr 1996;129:892-897.
66. Kabra SK, Kabra M, Shastri S, Lodha R. Diagnosing and managing cystic fibrosis in the developing world. Paediatr Respir Rev 2006;7:S147-S150.
67. Helm RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterozygous US population using expanded pan ethnic mutation panel. Genet Med 2001;3:168-176.
68. Kapranov N, Ginter E, Kashirskaja N, Hill CM, llangovan P, Rolles CJ. Cystic fibrosis in Russia: Background and a model for future collaboration with the West. J R Soc Med 1996;89:44-47.
69. Kabra SK, Kabra M, Ghosh M, Khanna A, Pandey RM. Cystic fibrosis in Indian children: Clinical profile of 62 children. Pediatr Pulmonol 1999;19:337 (Abstract).