囊性纤维化的诊治进展_West China Medical Journal

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王妍亭 , 杨晓东 , 刘韶华

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Keywords：

囊性纤维化; 囊性纤维化跨膜传导调节因子; 诊断; 治疗

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囊性纤维化（CF）是累及全身多脏器的致死性常染色体隐性遗传病。在我国，由于CF发病率低，缺乏广泛推行的诊断技术，临床医师对该疾病认识不足等因素，导致对该疾病的诊断量少且诊断级别低。为增强临床工作者对该疾病的认识，现将相关研究文献中目前关于CF诊断检测技术及治疗药物进行综述。

Citation： 王妍亭,杨晓东,刘韶华. 囊性纤维化的诊治进展. West China Medical Journal, 2012, 27(8): 1271-1275. doi: Copy

1.	Riordan JR, Rommens JM, Kerem B. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA[J]. Science, 1989, 245(4922): 1066-1073.
2.	Yamashiro Y, Shimizu T, Oguchi S, et al. The estimated incidence of cystic ﬁbrosis in Japan[J]. J Pediatr Gastroenterol Nutr, 1997, 24(5): 544-547.
3.	张林, 李文峰, 王成伟, 等. 胰腺囊性纤维化病1例报道[J]. 农垦医学, 2010, 32(6): 567-569.
4.	王苹莉, 景继勇, 沈华浩. 20例中国人囊性纤维化回顾分析[J]. 中华儿科杂志, 2008, 46(8): 634.
5.	Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic ﬁbrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report[J]. J Pediatr, 2008(153): S4-S14.
6.	Kreda SM, Mall M, Mengos A, et al. Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia[J]. Mol Biol Cell, 2005, 16(5): 2154-2167.
7.	Harrison TR, Kasper DL. Harrison’s principles of internal medicine[M]. 16th ed. New York: McGraw-Hill, 2005: 1543-1546.
8.	Collacoa JM, Cutting GR. Update on gene modifiers in cystic fibrosis[J]. Curr Opin Pulm Med, 2008, 14(6): 559-566.
9.	Stuppia L, Antonucci I, Binni F, et al. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs[J]. Eur J Hum Genet, 2005, 13(8): 959-964.
10.	Committee on Genetics, American College of Obstetricians and Gynecologists. ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis[J]. Obstet Gynecol, 2005, 106(6): 1465-1468.
11.	Comeau AM, Accurso FJ, White TB, et al. Guidelines for implementation of cystic ﬁbrosis newborn screening programs: Cystic Fibrosis Foundation workshop report[J]. Pediatrics, 2007, 119(2): e495-e518.
12.	Wilcken B, Chalmers G. Reduced morbidity in patients with cystic ﬁbrosis detected by neonatal screening[J]. Lancet, 1985, 2(8468): 1319-1321.
13.	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[J]. Pediatrics, 2001, 107(1): 1-13.
14.	Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis[J]. Pediatrics, 1959, 23(3): 545-549.
15.	Legrys VA, Yankaskas JR, Quittell LM, et al. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines[J]. J Pediatr, 2007, 151(1): 85-89.
16.	De Boeck K, Derichs N, Fajac I, et al. New clinical diagnostic procedures for cystic ﬁbrosis in Europe[J]. J Cyst Fibros, 2011, 10(Suppl 2): S53-S66.
17.	Lay-Son G, Puga A, Astudillo P, et al. Cystic fibrosis in chilean patients: analysis of 36 common CFTR gene mutations[J]. J Cyst Fibros, 2011, 10(1): 66-70.
18.	Wong LJ, Wang J, Zhang YH, et al. Improved detection of CFTR mutations in southern California Hispanic CF patients[J]. Hum Mutat, 2002, 19(1): 79.
19.	Sarah B, Kati J, Choli L, et al. Exome sequencing identifies the cause of a Mendelian disorder[J]. Nat Genet, 2010, 42(1): 30-35.
20.	Li N, Pei P, Bu DF, et al. A novel CFTR mutation found in a Chinese patient with cystic fibrosis[J]. Chin Med J, 2006, 119(2): 103-109.
21.	陈柏华, 张思仲, 杨元. 我国大陆首例DNA分析证实的囊性纤维化病及其突变分析[J]. 中华医学遗传学杂志, 1995, 12(1): 5-9, 65.
22.	Ratjen FA. Cystic fibrosis: pathogenesis and future treatment strategies[J]. Respir Care, 2009, 54(5): 595-605.
23.	Waters V, Yau Y, Prasad S, et al. Stenotrophomonas maltophilia in cystic ﬁbrosis: serologic response and effect on lung disease[J]. Am J Respir Crit Care Med, 2011, 183(5): 635-640.
24.	Dasenbrook EC, Checkley W, Merlo CA, et al. Association between respiratory tract methicillin-resistant Staphylococcus aureus and survival in cystic ﬁbrosis[J]. JAMA, 2010, 303(23): 2386-2392.
25.	Sudfeld CR, Dasenbrook EC, Merz WG, et al. Prevalence and risk factors for recovery of ﬁlamentous fungi in individuals with cystic ﬁbrosis[J]. J Cyst Fibros, 2010, 9(2): 110-116.
26.	Flume PA, Mogayzel PJ, Robinson KA, et al. Cystic ﬁbrosis pulmonary guidelines:treatment of pulmonary exacerbations[J]. Am J Respir Crit Care Med, 2009, 180(9): 802-808.
27.	Patrick AF, O’sullivan BP, Robinson KA, et al. Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health[J]. Am J Respir Crit Care Med, 2007, 176(10): 957-969.
28.	Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations[J]. N Engl J Med, 2003, 349(15): 1433-1441.
29.	Yun C, Dong C, RuiWang, et al. Effectiveness and safety of macrolides in cystic ﬁbrosis patients:a meta-analysis and systematic review[J]. J Antimicrob Chemother, 2011, 66(5): 968-978.
30.	Saiman L, Marshall BC, Mayer-Hamblett N, et al. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial[J]. JAMA, 2003, 290(13): 1749-1756.
31.	Elizur A, Cannon CL, Ferkol TW. Airway Inflammation in Cystic Fibrosis[J]. Chest, 2008, 133(2): 489-495.
32.	Collaco JM, Green DM, Cutting GR, et al. Location and duration of treatment of cystic ﬁbrosis respiratory exacerbations do not affect outcomes[J]. Am J Respir Crit Care Med, 2010, 182(9): 1137-1143.
33.	Bradley JM, Moran FM, Stuart EJ. Evidence for physical therapies (airway clearance and physical training)in cystic ﬁbrosis:an overview of ﬁve Cochrane systematic reviews[J]. Respir Med, 2006, 100(2): 191-201.
34.	Dentice R, Elkins M. Timing of dornase alfa inhalation for cystic ﬁbrosis[J]. Cochrane Database of Systematic Reviews, 2011(5): CD007923.
35.	Sinaasappel M, Stern M, Littlewood J, et al. Nutrition in patients with cystic fibrosis: a European Consensus[J]. J Cyst Fibros, 2002, 1(2): 51-75.
36.	Corey M, Mclaughlin FJ, Williams M, et al. A comparison of survival, growth, and pulmonary function in patients with cystic fibrosis in Boston and Toronto[J]. J Clin Epidemiol, 1988, 41(6): 583-591.
37.	Kerem E, Reisman J, Corey M, et al. Prediction of mortality in patients with cystic fibrosis[J]. N Engl J Med, 1992, 326(18): 1187-1191.
38.	Belkin RA, Henig NR, Singer LG, et al. Risk factors for death of patients with cystic fibrosis awaiting lung transplantation[J]. Am J Respir Crit Care Med, 2006, 173(6): 659-666.
39.	Theodore GL, Frederick RA, David RC, et al. Lung transplantation and survival in children with cystic fibrosis[J]. N Engl J Med, 2007, 357(21): 2143-2152.
40.	Dodge JA, Lewis PA, Stanton M, et al. Cystic fibrosis mortality and survival in the UK: 1947-2003[J]. Eur Respir J, 2007, 29(3): 522-526.
41.	Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770[J]. Proc Natl Acad Sci USA, 2009, 106(44): 18825-18830.

1. 　Riordan JR, Rommens JM, Kerem B. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA[J]. Science, 1989, 245(4922): 1066-1073.
2. 　Yamashiro Y, Shimizu T, Oguchi S, et al. The estimated incidence of cystic ﬁbrosis in Japan[J]. J Pediatr Gastroenterol Nutr, 1997, 24(5): 544-547.
3. 　张林, 李文峰, 王成伟, 等. 胰腺囊性纤维化病1例报道[J]. 农垦医学, 2010, 32(6): 567-569.
4. 　王苹莉, 景继勇, 沈华浩. 20例中国人囊性纤维化回顾分析[J]. 中华儿科杂志, 2008, 46(8): 634.
5. 　Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic ﬁbrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report[J]. J Pediatr, 2008(153): S4-S14.
6. 　Kreda SM, Mall M, Mengos A, et al. Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia[J]. Mol Biol Cell, 2005, 16(5): 2154-2167.
7. 　Harrison TR, Kasper DL. Harrison’s principles of internal medicine[M]. 16th ed. New York: McGraw-Hill, 2005: 1543-1546.
8. 　Collacoa JM, Cutting GR. Update on gene modifiers in cystic fibrosis[J]. Curr Opin Pulm Med, 2008, 14(6): 559-566.
9. 　Stuppia L, Antonucci I, Binni F, et al. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs[J]. Eur J Hum Genet, 2005, 13(8): 959-964.
10. 　Committee on Genetics, American College of Obstetricians and Gynecologists. ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis[J]. Obstet Gynecol, 2005, 106(6): 1465-1468.
11. 　Comeau AM, Accurso FJ, White TB, et al. Guidelines for implementation of cystic ﬁbrosis newborn screening programs: Cystic Fibrosis Foundation workshop report[J]. Pediatrics, 2007, 119(2): e495-e518.
12. 　Wilcken B, Chalmers G. Reduced morbidity in patients with cystic ﬁbrosis detected by neonatal screening[J]. Lancet, 1985, 2(8468): 1319-1321.
13. 　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[J]. Pediatrics, 2001, 107(1): 1-13.
14. 　Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis[J]. Pediatrics, 1959, 23(3): 545-549.
15. 　Legrys VA, Yankaskas JR, Quittell LM, et al. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines[J]. J Pediatr, 2007, 151(1): 85-89.
16. 　De Boeck K, Derichs N, Fajac I, et al. New clinical diagnostic procedures for cystic ﬁbrosis in Europe[J]. J Cyst Fibros, 2011, 10(Suppl 2): S53-S66.
17. 　Lay-Son G, Puga A, Astudillo P, et al. Cystic fibrosis in chilean patients: analysis of 36 common CFTR gene mutations[J]. J Cyst Fibros, 2011, 10(1): 66-70.
18. 　Wong LJ, Wang J, Zhang YH, et al. Improved detection of CFTR mutations in southern California Hispanic CF patients[J]. Hum Mutat, 2002, 19(1): 79.
19. 　Sarah B, Kati J, Choli L, et al. Exome sequencing identifies the cause of a Mendelian disorder[J]. Nat Genet, 2010, 42(1): 30-35.
20. 　Li N, Pei P, Bu DF, et al. A novel CFTR mutation found in a Chinese patient with cystic fibrosis[J]. Chin Med J, 2006, 119(2): 103-109.
21. 　陈柏华, 张思仲, 杨元. 我国大陆首例DNA分析证实的囊性纤维化病及其突变分析[J]. 中华医学遗传学杂志, 1995, 12(1): 5-9, 65.
22. 　Ratjen FA. Cystic fibrosis: pathogenesis and future treatment strategies[J]. Respir Care, 2009, 54(5): 595-605.
23. 　Waters V, Yau Y, Prasad S, et al. Stenotrophomonas maltophilia in cystic ﬁbrosis: serologic response and effect on lung disease[J]. Am J Respir Crit Care Med, 2011, 183(5): 635-640.
24. 　Dasenbrook EC, Checkley W, Merlo CA, et al. Association between respiratory tract methicillin-resistant Staphylococcus aureus and survival in cystic ﬁbrosis[J]. JAMA, 2010, 303(23): 2386-2392.
25. 　Sudfeld CR, Dasenbrook EC, Merz WG, et al. Prevalence and risk factors for recovery of ﬁlamentous fungi in individuals with cystic ﬁbrosis[J]. J Cyst Fibros, 2010, 9(2): 110-116.
26. 　Flume PA, Mogayzel PJ, Robinson KA, et al. Cystic ﬁbrosis pulmonary guidelines:treatment of pulmonary exacerbations[J]. Am J Respir Crit Care Med, 2009, 180(9): 802-808.
27. 　Patrick AF, O’sullivan BP, Robinson KA, et al. Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health[J]. Am J Respir Crit Care Med, 2007, 176(10): 957-969.
28. 　Wilschanski M, Yahav Y, Yaacov Y, et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations[J]. N Engl J Med, 2003, 349(15): 1433-1441.
29. 　Yun C, Dong C, RuiWang, et al. Effectiveness and safety of macrolides in cystic ﬁbrosis patients:a meta-analysis and systematic review[J]. J Antimicrob Chemother, 2011, 66(5): 968-978.
30. 　Saiman L, Marshall BC, Mayer-Hamblett N, et al. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial[J]. JAMA, 2003, 290(13): 1749-1756.
31. 　Elizur A, Cannon CL, Ferkol TW. Airway Inflammation in Cystic Fibrosis[J]. Chest, 2008, 133(2): 489-495.
32. 　Collaco JM, Green DM, Cutting GR, et al. Location and duration of treatment of cystic ﬁbrosis respiratory exacerbations do not affect outcomes[J]. Am J Respir Crit Care Med, 2010, 182(9): 1137-1143.
33. 　Bradley JM, Moran FM, Stuart EJ. Evidence for physical therapies (airway clearance and physical training)in cystic ﬁbrosis:an overview of ﬁve Cochrane systematic reviews[J]. Respir Med, 2006, 100(2): 191-201.
34. 　Dentice R, Elkins M. Timing of dornase alfa inhalation for cystic ﬁbrosis[J]. Cochrane Database of Systematic Reviews, 2011(5): CD007923.
35. 　Sinaasappel M, Stern M, Littlewood J, et al. Nutrition in patients with cystic fibrosis: a European Consensus[J]. J Cyst Fibros, 2002, 1(2): 51-75.
36. 　Corey M, Mclaughlin FJ, Williams M, et al. A comparison of survival, growth, and pulmonary function in patients with cystic fibrosis in Boston and Toronto[J]. J Clin Epidemiol, 1988, 41(6): 583-591.
37. 　Kerem E, Reisman J, Corey M, et al. Prediction of mortality in patients with cystic fibrosis[J]. N Engl J Med, 1992, 326(18): 1187-1191.
38. 　Belkin RA, Henig NR, Singer LG, et al. Risk factors for death of patients with cystic fibrosis awaiting lung transplantation[J]. Am J Respir Crit Care Med, 2006, 173(6): 659-666.
39. 　Theodore GL, Frederick RA, David RC, et al. Lung transplantation and survival in children with cystic fibrosis[J]. N Engl J Med, 2007, 357(21): 2143-2152.
40. 　Dodge JA, Lewis PA, Stanton M, et al. Cystic fibrosis mortality and survival in the UK: 1947-2003[J]. Eur Respir J, 2007, 29(3): 522-526.
41. 　Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770[J]. Proc Natl Acad Sci USA, 2009, 106(44): 18825-18830.

West China Medical Journal

囊性纤维化的诊治进展

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