Preview

PULMONOLOGIYA

Advanced search

Molecular basis and clinical aspects of alfa 1 -antitripsin deficiency

About the Authors

V. P. Pusyrev
НИИ медицинской генетики ТНЦ СО РАМН
Russian Federation


V. Ya. Savyuk
НИИ медицинской генетики ТНЦ СО РАМН
Russian Federation


References

1. Кравчук О.И.. Балановский О.П., Нурбаев С.Д. и др. Геногеография коренного населения Марий Эл (по данным об иммунобиологическом полиморфизме). Генетика 1998; 34: 1542-1554.

2. Кучер А.Н., Пузырев В.П., Иванова О.Ф. и др. Изучение субтипов сывороточных белков у русских жителей Томской области. Там же 1993; 29: 845-852.

3. Спицын В.А., Новорадовский А.Г., Спицына Н.Х., Парик Ю.Я. Полиморфизм а,-антитрипсина в популяциях Памира. Репродуктивная компенсация — возможный механизм поддержания генетического разнообразия популяций по генам Pi у человека. Там же 1989; 25: 2218-2224.

4. Спицын В.А., Макаров С.В., Пай Г.В. и др. Генетический полиморфизм и профессиональные заболевания: итоги 10-летних исследований. Вестн. РАМН 2000; 5: 27-32.

5. Терапия: Пер. с англ. М.: Гэотар медицина; 1997. 97, 311, 909.

6. Чучалин А.Г., Кронина J1.A., Воронина Л.М., Симилъчук Е.И. Случай сочетания муковисцидоза с дефицитом альфа-1-антитрипсина. Пульмонология 1994; 4 (3): 82-85.

7. Aboussouan L.S., Stoller J.K. New developments in α1-antitrypsin deficiency. Seminars Respir. Crit. Care Med. 1999; 20: 301-310.

8. α1-Antitrypsin deficiency: Memorandum from a WHO meeting. Bull. WHO. 1997; 75 (5): 397-415.

9. Beckman L., Sikstrom C., Mikelsaar A.-V. et al. α1-antitrypsin (Pi) alleles as markers of westeuropean influence in the Baltic Sea Region. Hum. Hered. 1999; 49: 52-55.

10. Blank C.A., Brantly M. Clinical features and molecular characteristics of α1-antitrypsin deficiency. Ann. Allergy 1994; 72: 105-122.

11. Blanko I., Fernandez E., Rodriguez M.C., Fernandez A. Allelic frequency of the gene of α1-antitrypsin in the general population in a county in Asturias. Med. Clin. (Bare.) 1999; 113: 266-270.

12. Boomsma D.I., Frants R.R., Bank R.A., Martin N.G. Protease inhibitor (Pi) locus, fertility and twinning. Hum. Genet. 1992; 89: 329-332.

13. Brantly М., Nukiwa Т., Crystal R.G. Molecular basis of Z α1-antitrypsin deficiency. Am. J. Med. 1988; 84 (suppl.6A): 13-31.

14. Browne R.J., Mannino D.M., Khoury M.J. α1-antitrypsin deficiency deaths in the United States from 1979-1991. An analysis using multiple-cause mortality data. Chest 1996; 110: 78-83.

15. Campbell E.J., Campbell M.A., Boukedes S.S., Owen C.A. Quantum proteolysis by neutrophils: implication for pulmonary emphysema in α1-antitrypsin deficiency. J. Clin. Invest. 1999; 104: 337-344.

16. Carrell R.W ., Lomas D.A., Sidhar S., Foreman R. α1-antitrypsin deficiency — a conformational disease. Chest 1996; 110: 243S-247S.

17. Cox. D.W. α1-Antitrypsin deficiency. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill; 1989. 35.

18. Crystal R.G. The α1-antitrypsin gene and its deficiency states. Trends Genet. 1989; 5: 411-417.

19. Dry P.J. Rapid detection of «α1-antitrypsin deficiency by analysis of PCR-induced TaqI restriction site. Hum. Genet. 1991; 87: 742-744.

20. Eigenbrodt M.L., McCashland T.M., Dy R. M. et al. Heterozygous α1-antitrypsin phenotypes in patients with end stage liver disease. Am. J. Gastroenterol. 1997; 92: 602-607.

21. El-Kassimi F.A., Warsy A.S., Uz-Zaman A.A., Pillai D.K. α1-antitrypsin serum levels in widespread bronchiectasis. Respir. Med. 1989; 83: 119-121.

22. Elzouki A.N .Y., Segelmark М., Wieslander J., Eriksson S. Strong link between the α1-antitrypsin PiZ allele and Wegener's granulomatosis. J. Intern. Med. 1994; 236: 543-548.

23. Eriksson S.A. 30-year perspective on α1-antitrypsin deficiency. Chest 1996; 110 (suppl. P): 237S-242S.

24. Fonseca-Perez T., Gonzales-Coira M ., Arias S. Pi locus (α1-antitrypsin) allelic frequences in an Andean Venezuelan population. Gene Geogr. 1996; 10: 65-74.

25. Gadek J.E., Crystal R.G. «α1-Antitrypsin deficiency. In: Stanbury J.B., Wyngaarden J.B., Frederickson D.S. et al., eds. The metabolic basis of inherited disease. 5th ed. New York: McGrawHill; 1983. 1450-1467.

26. Graham A., Hayes K., Weidinger S. et al. Characterization of the «α1-antitrypsin M3 gene, a normal variant. Hum. Genet. 1990; 85: 381-382.

27. Higgins M.W., Thom T. Incidence, prevalence, and mortality: intra- and intercountry differences. In: Hensley M.J., Saunders M.A., eds. Clinical epidemiology of chronic obstructive pulmonary disease. New York: Marcel Dekker; 1989. 71.

28. Knight K.R., Burdon J.G., Cook L. et al. The proteinase-antiproteinase theory of emphysema: a speculative analysis of recent advances into the pathogenesis of emphysema. Respirology 1997-2: 91-95.

29. Kowalska A., Rujner J., Titenko-Holland N.V., Pilacik B. «α1-Antitrypsin subtypes in Polish newborns. Hum. Hered. 1995* 45: 351-354.

30. Larsson C. Natural history and life expectancy in severe α1- antitrypsin deficiency, PiZ. Acta Med. Scand. 1978; 204-345-351.

31. Lomas D.A., Carrell R.W. A protein structural approach to the solution of biological problems: «α1-antitrypsin as a recent example. Am. J. Physiol. 1993; 265: 211-219.

32. Lieberman J., Winter B., Sastre A. α1-Antitrypsin P-types in 965 COPD patients. Chest 1986; 89: 370-373.

33. Mahadeva R., Stewart S., Bilton D., Lomas D.A. α1-antitrypsin deficiency alleles and severe cystic fibrosis lung disease. Thorax 1998; 53: 1022-1024.

34. Morgan K., Scobie G., Kalsheker N.A. Point mutation in a 3-prime flanking sequence of the α1-antitrypsin gene associated with chronic respiratory disease occurs in a regulatory sequence. Hum. Mol. Genet. 1993; 2: 253-257.

35. Novoradovsky A., Brantly M .L., Waclawiw M .A. et al. Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in α1-antitrypsin deficiency. Am. J. Respir. Cell. Mol. Biol. 1999; 20: 441-447.

36. Nukiwa T., Brantly M.L., Ogushi F. et al. Characterization of the gene and protein of the common α1-antitrypsin normal M2 allele. Am. J. Hum. Genet. 1998; 43: 322-330.

37. O'brien M. L., Buist N. R., Murphey W.H. Neonatal screening for α1-antitrypsin deficiency. J. Pediatr. 1978; 92: 1006-1010.

38. Piitulainen E., Tornling G., Eriksson S. Environmental correlates of impaired lung function in non-smokers with severe «α1-antitrypsin deficiency (PiZZ). Thorax 1998; 53: 939-943.

39. Pittelkow M.R., Smith K.C., Su W.P.D. α1-Antitrypsin deficiency and panniculitis: perspectives on disease relationship and replacement therapy. Am. J. Med. 1988; 84: 80-86.

40. Poller W., Faber J.-P., Scholz S. et al. Mis-sence mutation of a,-antichymotrypsin gene associated with chronic lung disease. Lancet 1992; 339: 1538.

41. Propst T., Propst A., Dietze O. et al. High prevalence of viral infection in adults with homozygous and heterozygous α1-antitrypsin deficiency and chronic liver disease. Ann. Intern. Med. 1992; 117: 641-645.

42. Samilchuk E., D'Souza B., Voevodin A. et al. TaqI polymorphism in the 3'-flanking region of the Pi gene among Kuwaiti Arabs and Russians. Dis. Markers 1997; 13 (2): 87-92.

43. Sandford A.J., Weir T.D., Pare P.D. Genetic risk factors for chronic obstructive pulmonary disease. Eur. Respir. J. 1997; 10: 1380-1391.

44. Seersholm N., Kok-Jensen A., Dirksen A. Survival of patients with severe α1-antitrypsin deficiency with special reference to non-index cases. Thorax 1994; 49: 695-698.

45. Seersholm N., Kok-Jensen A., Dirksen A. Decline in FEV, among patients with severe hereditary aj-antitrypsin deficiency type PiZ. Am. J. Respir. Crit. Care Med. 1995; 152: 1922-1925.

46. Seersholm N.. Kok-Jensen A. Intermediate α1-antitrypsin deficiency PiSZ: a risk factor for pulmonary emphysema? Respir. Med. 1998; 92: 241-245.

47. Shin M .S., Ho K.-J. Bronchiectasis in patients with α1-antitrypsin deficiency: a rare occurrence? Chest 1993; 104: 1384-1386.

48. Silverman E.K., Miletich J.P., Pierce J.A. et al. α1-Antitrypsin deficiency: high prevalence in the St. Louis area determined by direct population screening. Am. Rev. Respir. Dis. 1989; 140: 961-966.

49. Silverman E.K., Pierce J.A., Province M.A. et al. Variability of pulmonary function in α1-antitrypsin deficiency: clinical correlates. Ann. Intern. Med. 1989; 111: 982-991.

50. Silverman E.K., Speizer F.E. Risk factors for the development of chronic obstructive pulmonary disease. Med. Clin. N. Am. 1996; 80: 501-522.

51. Spence W.C., Morris I.E., Pass K., Murphy P.D. Molecular confirmation of α1-antitrypsin genotypes in newborn dried blood specimens. Biochem. Med. Metab. Biol. 1993; 50: 233-240.

52. Stockley R.A. α1-Antitrypsin and the pathogenesis of emphysema. Lung 1987; 165: 61-77.

53. Stoller J.K., Smith P., Yang P., Spray J. Physical and social impact of α1-antitrypsin deficiency: results of a mail survey of the readership of a national newsletter. Cleveland Clin. J. Med. 1994; 61: 461-467.

54. Stoller J.K. Clinical features and natural history of severe α1-antitrypsin deficiency. Chest 1997; 111: 123S-128S.

55. Sveger T. Liver disease in α1-antitrypsin deficiency detected by screening of 200,000 infants. N. Engl. J. Med. 1976; 294: 1316-1321.

56. Sveger T. Prospective study of children with α1-antitrypsin deficiency: 8-year-old follow-up. J. Pediatr. 1984; 104: 91-94.

57. Titenko-Holland N.V., Kowalska A. α1-antitrypsin (Pi) subtypes in Russians and Poles. Hum. Hered. 1992; 42: 384-386.

58. Turino G.M., Barker A.F., Brantly M.L. et al. Clinical features of individuals with Pi*SZ phenotype of α1-antitrypsin deficiency. α1-antitrypsin Deficiency Registry Study Group. Am. J. Respir. Crit. Care Med. 1996; 154: 1718-1725.

59. Yang P., Wentzlaff K.A., Katzman J.A. et al. α1-antitrypsin deficiency allele carriers among lung cancer patients. Cancer Epidemiol., Biomarkers Prevent. 1999; 8: 461-465.

60. Zhou H., Fisher H.P. Liver carcinoma in PiZ oq-antitrypsin deficiency. Am. J. Surg. Pathol. 1998; 22: 742-748.


Review

For citations:


Pusyrev V.P., Savyuk V.Ya. Molecular basis and clinical aspects of alfa 1 -antitripsin deficiency. PULMONOLOGIYA. 2003;(1):105-115. (In Russ.)

Views: 196


ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)