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Nuzhnaya E.Yu.

Not good enough

Authors:

Nuzhnaya E.Yu.

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Journal: Non Nocere. New Therapeutic Journal. 2025;(4): 76‑79

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Nuzhnaya EYu. Not good enough. Non Nocere. New Therapeutic Journal. 2025;(4):76‑79. (In Russ.)

 
 
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Abstract:

Alpha-1-antitrypsin deficiency.

Authors:

Nuzhnaya E.Yu.

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References:

  1. DeMeo DL, Silverman EK. Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax. 2004 Mar;59(3):259-264.  https://doi.org/10.1136/thx.2003.006502
  2. Greene CM, Marciniak SJ, Teckman J, et al. α1-Antitrypsin deficiency. Nat Rev Dis Primers. 2016 Jul 28;2:16051. https://doi.org/10.1038/nrdp.2016.51
  3. American Thoracic Society; European Respiratory Society. 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 Oct 1;168(7):818-900.  https://doi.org/10.1164/rccm.168.7.818
  4. Sinden NJ, Koura F, Stockley RA. The significance of the F variant of alpha 1-antitrypsin and unique case report of a PiFF homozygote. BMC Pulm Med. 2014 Aug 7;14:132.  https://doi.org/10.1186/1471-2466-14-132
  5. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005 Sep;128(3):1179-1186. https://doi.org/10.1378/chest.128.3.1179
  6. de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002 Nov;122(5):1818-1829. https://doi.org/10.1378/chest.122.5.1818
  7. de Serres FJ, Luisetti M, Ferrarotti I, Blanco I, Fernández-Bustillo E. Alpha 1 antitrypsin deficiency in Italy: regional differences of the PIS and PIZ deficiency alleles. Monaldi Arch Chest Dis. 2005 Sep;63(3):133-141.  https://doi.org/10.4081/monaldi.2005.630
  8. Hutchison DC. Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med. 1998 Mar;92(3):367-377.  https://doi.org/10.1016/s0954-6111(98)90278-5
  9. Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976 Jun 10;294(24):1316-1321. https://doi.org/10.1056/NEJM197606102942404
  10. Spence WC, Morris JE, Pass K, Murphy PD. Molecular confirmation of alpha 1-antitrypsin genotypes in newborn dried blood specimens. Biochem Med Metab Biol. 1993 Oct;50(2):233-240.  https://doi.org/10.1006/bmmb.1993.1065
  11. Strnad P, McElvaney NG, Lomas DA. Alpha1-Antitrypsin Deficiency. European Respiratory Society: Sheffield, UK, 2019. https://doi.org/10.1183/2312508X.erm8519
  12. Silverman EK, Miletich JP, Pierce JA, et al. Alpha 1-antitrypsin deficiency. High prevalence in the St. Louis area determined by direct population screening. Am Rev Respir Dis. 1989 Oct;140(4):961-966.  https://doi.org/10.1164/ajrccm/140.4.961
  13. Sandhaus RA, Turino G, Brantly ML, et al. The Diagnosis and Management of Alpha 1 Antitrypsin Deficiency in the Adult. Chronic Obstr Pulm Dis. 2016 Jun 6;3(3):668-682.  https://doi.org/10.15326/jcopdf.3.3.2015.0182
  14. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5):1700610. https://doi.org/10.1183/13993003.00610-2017
  15. Dasí F. Alpha 1 antitrypsin deficiency. Med Clin (Barc). 2024 Apr 12;162(7):336-342. English, Spanish. https://doi.org/10.1016/j.medcli.2023.10.014
  16. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204(5):345-51.  https://doi.org/10.1111/j.0954-6820.1978.tb08452.x
  17. Trudzinski FC, Presotto MA, Buck E, Herth FJF, Ries M. Orphan drug development in alpha 1 antitrypsin deficiency. Sci Rep. 2022 Sep 15;12(1):15497. https://doi.org/10.1038/s41598-022-19707-2
  18. Ministry of Health of the Russian Federation. Clinical Recommendations “Pulmonary Emphysema”. Year of approval: 2024. Date of access: 02.02.2025. https://spulmo.ru/upload/KR-emfizema-legkih-2024.pdf
  19. Rizvi SJ, Chauhan R, Gupta R, Modi P. Significance of pretransplant urinary tract infection in short-term renal allograft function and survival. Transplant Proc. 2008 May;40(4):1117-1118. https://doi.org/10.1016/j.transproceed.2008.03.075
  20. Carey EJ, Iyer VN, Nelson DR, Nguyen JH, Krowka MJ. Outcomes for recipients of liver transplantation for alpha 1-antitrypsin deficiency–related cirrhosis. Liver Transpl. 2013 Dec;19(12):1370-1376. https://doi.org/10.1002/lt.23744
  21. Sorsa T, Lindy O, Konttinen YT, et al. Doxycycline in the protection of serum alpha 1-antitrypsin from human neutrophil collagenase and gelatinase. Antimicrob Agents Chemother. 1993 Mar;37(3):592-594.  https://doi.org/10.1128/AAC.37.3.592
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