The clinical and laboratory manifestations of Iranian patients with cystic fibrosis

Turkish Journal of Pediatrics

Volumn 52, Issue 2, 2010, Pages 132-138

  Fallahi, Gholamhossein ^a   Najafi, Mehri ^a   Farhmand, Fatemeh ^a   Bazvand, Fatemeh ^a   Ahmadi, Maedeh ^a   Ahmadi, Faezeh ^a   Eftekhari, Kambiz ^a   Khodad, Ahmad ^a   Motamed, Farzaneh ^a   Khatami, Gholamreza ^a   Aghamohammadi, Asghar ^a,b   Rezaei, Nima ^a,b  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Cystic fibrosis; Iran; Respiratory infection

Indexed keywords

BRONCHODILATING AGENT; COTRIMOXAZOLE; KREON; URSODEOXYCHOLIC ACID;

ADULT; ARTICLE; BREATHING EXERCISE; CALORIC INTAKE; CHILD; CLINICAL EVALUATION; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; COUGHING; CYSTIC FIBROSIS; DIARRHEA; ECHOGRAPHY; FAILURE TO THRIVE; FAMILY HISTORY; FEMALE; GASTROINTESTINAL DISEASE; HEPATOMEGALY; HUMAN; INFANT; INFECTION; IRAN; LABORATORY DIAGNOSIS; LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MALNUTRITION; PANCREAS INSUFFICIENCY; PNEUMONIA; PROTHROMBIN TIME; RESPIRATORY DISTRESS; RESPIRATORY TRACT DISEASE; SCHOOL CHILD; THORAX RADIOGRAPHY; TREATMENT INDICATION; VITAMIN SUPPLEMENTATION; VOMITING; ADOLESCENT; DIFFERENTIAL DIAGNOSIS; GENETICS; PRESCHOOL CHILD; RISK FACTOR;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; CYSTIC FIBROSIS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; IRAN; MALE; RISK FACTORS; YOUNG ADULT;

EID: 77955501590     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (55)

1. Online Mendelian Inheritance in Man. Cystic Fibrosis. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700.
2. Marshall SG, Debley JS. The respiratory system. In: Kliegman RM, Marcdante KJ, Jenson HB, Behrman RE (eds). Nelson Essentials of Pediatrics (5th ed). Philadelphia: Elsevier Saunders; 2006: 648-649.
3. Davis PB, di Sant'Agnese PA. Diagnosis and treatment of cystic fibrosis. An update. Chest 1984; 85: 802-809.
4. Dalcin Pde T, Rampon G, Pasin LR, Ramon GM, Abrahão CL, Oliveira VZ. Adherence to treatment in patients with cystic fibrosis. J Bras Pneumol 2007; 33: 663-670.
5. Ackerman MJ, Clapham DE. Ion channels-basic science and clinical disease. N Engl J Med 1997; 336: 1575-1586.
6. Grossman S, Grossman LC. Pathophysiology of cystic fibrosis. Crit Care Nurse 2005; 25: 46-51.
7. Pier GB, Grout M, Zaidi TS. Cystic fibrosis transmembrane conductance regulator is an epithelial cell receptor for clearance of Pseudomonas aeruginosa from the lung. Proc Natl Acad Sci USA 1997; 94: 12088-12093.
8. McAuley DF, Elborn JS. Cystic fibrosis: basic science. Paediatr Respir Rev 2000; 1: 93-100.
9. Alibakhshi R, Zamani M. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients. Iran J Allergy Asthma Immunol 2006; 5: 3-8.
10. Lai HJ, Cheng Y, Cho H, Kosorok MR, Farrell PM. Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 2004; 159: 537-546.
11. McCormick J, Sims EJ, Mehta A. Delayed diagnosis of females with respiratory presentation of cystic fibrosis did not segregate with poorer clinical outcome. J Clin Epidemiol 2006; 59: 315-322.
12. Smith JA, Owen EC, Jones AM, Dodd ME, Webb AK, Woodcock A. Objective measurement of cough during pulmonary exacerbations in adults with cystic fibrosis. Thorax 2006; 61: 425-429.
13. Corey M, Farewell V. Determinants of mortality from cystic fibrosis in Canada, 1970-1989. Am J Epidemiol 1996; 143: 1007-1017.
14. Castro-Silva C, Damasceno R, Neto O, Alves A, Bruin V. Clinical and laboratory features of 50 patients with cystic fibrosis from a reference center in Brazil. Rev Port Pneumol 2006; 12: 18-19.
15. Rezaei N, Pourpak Z, Aghamohammadi A, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol 2006; 56: 145-151.
16. Sturgess JM, Czegledy-Nagy E, Corey M, Thompson MW. Cystic fibrosis in Ontario. Am J Med Genet 1985; 22: 383-393.
17. Rodman DM, Polis JM, Heltshe SL, et al. Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. Am J Respir Crit Care Med 2005; 171: 621-626.
18. Oliveira MC, Reis FJ, Monteiro AP, Penna FJ. Effect of meconium ileus on the clinical prognosis of patients with cystic fibrosis. Biol Res 2002; 35: 31-38.
19. Bettinelli ME, Civardi A, Constantini D, et al. Survival in cystic fibrosis: preliminary report from an Italian multicenter study. Acta Universitatis Carolinae Medica 1990; 36: 215-216.
20. Wood RE, Boat TF, Doershuk CF. Cystic fibrosis. Am Rev Respir Dis 1976; 113: 833-878.
21. Kerem E, Corey M, Kerem B, Durie P, Tsui LC, Levison H. Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus. J Pediatr 1989; 114: 767-773.
22. Wood BP. Cystic fibrosis. Radiology 1997; 204: 110.
23. Efrati O, Barak A, Modan-Moses D, et al. Liver cirrhosis and portal hypertension in cystic fibrosis. Eur J Gastroenterol Hepatol 2003; 15: 1073-1078.
24. Colombo C, Apostolo MG, Ferrari M, et al. Analysis of risk factors for the development of liver disease associated with cystic fibrosis. J Pediatr 1994; 124: 393-399.
25. Maurage C, Lenaerts C, Weber A, Brochu P, Yousef I, Roy CC. Meconium ileus and its equivalent as a risk factor for the development of cirrhosis: an autopsy study in cystic fibrosis. J Pediatr Gastroenterol Nutr 1989; 9: 17-20.
26. Shapira R, Hadzic N, Francavilla R, Koukulis G, Price JF, Mieli-Vergani G. Retrospective review of cystic fibrosis presenting as infantile liver disease. Arch Dis Child 1999; 81: 125-128.
27. Lamireau T, Monnereau S, Martin S, Marcotte JE, Winnock M, Alvarez F. Epidemiology of liver disease in cystic fibrosis: a longitudinal study. J Hepatol 2004; 41: 1041-1044.
28. Wilschanski M, Rivlin J, Cohen S, et al. Clinical and genetic risk factors for cystic fibrosis-related liver disease. Pediatrics 1999; 103: 52-57.
29. Rodman HM, Doershuk CF, Roland JM. The interaction of 2 diseases: diabetes mellitus and cystic fibrosis. Medicine 1986; 65: 389-397.
30. Castro FA, Fernandes MI, Junior RM, Foss MC. Study of the frequency of diabetes mellitus and glucose intolerance in patients with cystic fibrosis. J Pediatr (Rio J) 2001; 77: 321-326.
31. Ater JL, Herbst JJ, Landaw SA, O'Brien RT. Relative anemia and iron deficiency in cystic fibrosis. Pediatrics 1983; 71: 810-814.
32. Nielsen OH, Larsen BF. The incidence of anemia, hypoproteinemia, and edema in infants as presenting symptoms of cystic fibrosis: a retrospective survey of the frequency of this symptom complex in 130 patients with cystic fibrosis. J Pediatr Gastroenterol Nutr 1982; 1: 355-359.
33. Zulueta Garicano C, Navas Heredia C, Marcos Andres H, Gonzalez Armengod C, Centeno Malfaz F. Neonatal cholestasis associated with liver failure as a clinical manifestation of cystic fibrosis. An Esp Pediatr 2001; 55: 285-287.
34. Diwakar V, Pearson L, Beath S. Liver disease in children with cystic fibrosis. Paediatr Respir Rev 2001; 2: 340-349.
35. Kerem E, Reisman J, Corey M, Canny GJ, Levison H. Prediction of mortality in patients with cystic fibrosis. N Engl J Med 1992; 326: 1187-1191.
36. Rosenfeld M, Davis R, FitzSimmons S, Pepe M, Ramsey B. Gender gap in cystic fibrosis mortality. Am J Epidemiol 1997; 145: 794-803.
37. Liou TG, Adler FR, Fitzsimmons SC, Cahill BC, Hibbs JR, Marshall BC. Predictive 5-year survivorship model of cystic fibrosis. Am J Epidemiol 2001; 153: 345-352.
38. Britton JR. Effects of social class, sex and region of residence on age at death from cystic fibrosis. BMJ 1989; 298: 483-487.
39. Lai HC, Kosorok MR, Laxova A, Makholm LM, Farrell PM. Delayed diagnosis of US females with cystic fibrosis. Am J Epidemiol 2002; 156: 165-173.
40. [No authors listed]. Correlation between genotype and phenotype in patients with CF. The Cystic Fibrosis Genotype-Phenotype Consortium. N Engl J Med 1993; 329: 1308-1313.
41. O'Connor GT, Quinton HB, Kahn R, et al. Case-mix adjustment for evaluation of mortality in CF. Pediatr Pulmonol 2002; 33: 99-105.
42. Fitzsimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr 1993: 122: 1-9.
43. Dodge JA, Morison S, Lewis PA, et al. Cystic fibrosis in the United Kingdom, 1968-88: incidence, population and survival. Paediatr Perinatal Epidemiol 1993; 7: 157-166.
44. Kraemer R, Stoll E, Moser H, Rossi E. Morbidity and mortality in cystic fibrosis. Results of 20 years of experience. Schweiz Med Wochenschr 1977; 107: 271-275.
45. Hill DJ, Martin AJ, Davidson GP, Smith GS. Survival of cystic fibrosis patients in South Australia. Evidence that cystic fibrosis centre care leads to better survival. Med J Aust 1985; 143: 230-232.
46. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics 2001; 107: 1-13.
47. Farrell PM. Improving the health of patients with cystic fibrosis through newborn screening. Adv Pediatr 2000; 47: 79-115.
48. Waters DL, Wilcken B, Irwing L, et al. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 1999; 80: F1-F7.
49. Shwachman H, Kulczycki LL. Long-term study of one hundred five patients with cystic fibrosis. Am J Dis Child 1958; 96: 7-15.
50. George L, Norman AP. Life tables for cystic fibrosis. Arch Dis Child 1971; 46: 139-143.
51. Merelle ME, Schouten JP, Gerritsen J, Dankert-Roelse JE. Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients. Eur Respir J 2001; 18: 306-315.
52. Doull IJ, Ryley HC, Weller P, Goodchild MC. Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr Pulmonol 2001; 31: 363-366.
53. Assael BM, Castellani C, Ocampo MB, Iansa P, Callegaro A, Valsecchi MG. Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years. Am J Epidemiol 2002; 156: 397-401.
54. Elahi E, Khodadad A, Kupershmidt I, et al. A haplotype framework for cystic fibrosis mutations in Iran. J Mol Diagn 2006; 8: 119-127.
55. Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros 2008; 7: 102-109.