α1-Antitripsin deficiency in a pulmonologist' practice
https://doi.org/10.18093/0869-0189-2015-25-4-505-508
Abstract
α1 Antitripsin deficiency (AAT) is an orphan respiratory disease. Genetic risk factors of chronic obstructive pulmonary disease (COPD) can cause AAT and primary emphysema of the lungs. AAT genotyping plays the key role for diagnosis. Early detection of AAT deficient phenotypes is crucial for prevention and treatment of COPD and slowing emphysema progression. A case of inherited AAT deficiency in a patient with deficient phenotype PiZZ is described in this article. A diagnostic algorithm for AAT is proposed.
About the Author
O. G. Solov'eva
E.M.Niginskiy Tyumen' State Medical Academy, Healthcare Ministry of Russia: 54, Odesskaya str., Tyumen', 625030, Russia
E.M.Niginskiy Reference Outpatient Clinic: 89A, Mel'nikayte str., Tyumen', 625027, Russia
Russian Federation
Russian Federation
MD, Professor at Department of Histology and Embryology, E.M.Niginskiy Tyumen' State Medical Academy, Healthcare Ministry of Russia; pulmonologist at E.M.Niginskiy Reference Outpatient Clinic; tel.: (345) 2906262, (345) 2203093
References
1. Aver'yanov A.V., Polivanova A.E. Alfa1 antitripsin deficiency and chronic obstructive pulmonary disease. Pul'monolo giya. 2007; 3: 103–109 (in Russian).
2. Strange C., Stoller J.K., Sandhaus R.A. et al. Results of a survey of patients with alpha1 antitrypsin deficiency. Respiration. 2006; 73: 185–190.
3. Brodskaya O.N. Inherited alfa1 antitripsin deficiency. Atmos fera. Pul'monologiya i allergologiya 2008; 4: 58–59 (in Russian).
4. Dawwas M.F., Davies S.E., Griffiths W.J. et al. Prevalence and risk factors for liver involvement in individuals with PiZZ related lung disease. Am. J. Respir. Crit. Care Med. 2013; 187 (5): 502–508.
5. Olisova O.Yu., Grabovskaya O.V., Teplyuk N.P. et al. Panniculitis caused by alfa1 antitripsin deficiency. Ros siyskiy zhurnal kozhnykh i venericheskikh bolezney. 2014; 3: 32–35 (in Russian).
6. Pini L., Tiberio L., Venkatestan N. et al. The role of bronchial epithelial cells in the pathogenesis of COPD in Z alpha 1 antitrypsin deficiency. Respir. Res. 2014; 15 (1): 112.
7. Greene C.M., Hassan T., Molloy K. et al. The role of proteases, endoplasmic reticulum stress and SERPINA1 het erozygosity in lung disease and α1 antitrypsin deficiency. Exp. Rev. Respir. Med. 2011; 5 (3): 395–411.
8. Puzyrev V.P., Ogorodova L.M. Alfa1 antitripsin deficiency. In.: Chuchalin A.G., ed. Genetics of respiratory diseases. Moscow: Atmosfera; 2010: 38–50 (in Russian).
9. Alam S., Li Z., Atkinson C. et al. Z. Alpha1 antitrypsin confers a proinflammatory phenotype that contributes to chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 2014; 189 (8): 909–931.
10. Vidal' R., Blanko I., Kasas F. et al. Clinical guidelines of Spanish Society of Pulmonology and Thoracic Surgery on diagnosis and management of patients with α1 antitripsin deficiency. Pul'monologiya. 2008; 1: 14–28 (in Russian).
11. Ferrarotti I., Thun G.A., Zorzetto M. et al. Serum levels and genotype distribution of alpha1 antitrypsin in the general population. Thorax. 2012; 67 (8): 669–674.
12. Satykova S.Zh. Alfa1 antitripsin level in ethnic Kyrgyz with chronic obstructive pulmonary disease: Dis. Bishkek; 2011 (in Russian).
13. American Thoracic Society / European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha 1 antitrypsin deficiency. Am. J. Respir. Crit. Care Med. 2003; 168: 818–900.
14. Campos M.A., Kueppers F., Stocks J.M. et al. Safety and pharmacokinetics of 120 mg/kg versus 60 mg/kg weekly intravenous infusions of alpha 1 proteinase inhibitor in alpha 1 antitrypsin deficiency: a multicenter, randomized, double blind, crossover study (SPARK). COPD. 2013; 10 (6): 687–695.
15. Saferali А., Lee J., Sin D.D. et al. Longer telomere length in COPD patients with α1 antitrypsin deficiency independent of lung function. PLoS ONE. 2014; 9 (4): e95600.
Review
For citations:
Solov'eva O.G. α1-Antitripsin deficiency in a pulmonologist' practice. PULMONOLOGIYA. 2015;25(4):505-508. (In Russ.) https://doi.org/10.18093/0869-0189-2015-25-4-505-508
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