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REVISTA DE CHIMIE
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https://doi.org/10.37358/Rev.Chim.1949

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Revista de Chimie (Rev. Chim.), Year 2018, Volume 69, Issue 5, 1152-1155

https://doi.org/10.37358/RC.18.5.6279

Ana Maria Zaharie, Sabina Antoniu, Joanna Chorostowska Wynimko, Florin Dumitru Mihaltan, Oana Claudia Deleanu, Beatrice Mahler, Lavinia Davidescu, Oana Cristina Arghir, Ruxandra Ulmeanu

Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges

Abstract:

Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed genetic disorder that manifests primarily through pulmonary and hepatic impairment. In Romania, a targeted detection program testing for AATD was implemented between October 2012 and October 2016. A cohort study enrolled all patients with indication for AATD screening (lung or liver disease, adults and children, index and non-index cases). Testing methods were mainly represented by isoelectric focusing, genotyping and/or sequencing. 620 patients (21 children) were tested (median age 50.0±16.4 years, 58.1% men), 91.9% of proved normal. A total of 50 patients were identified to be carrying a modified genotype (26 men). Hardy-Weinberg equilibrium was used for assessing the frequency of the genetic abnormalities: 1/1.08 PiMM, 1/32 PiMS, 1/28 PiMZ, 1/48 M-rare allele heterozygote, 1/3906 PiSS, 1/2770 PiZZ, 1/1000 PiSZ and 1/12346 for a Z-rare allele heterozygote. Severe AATD was present with a 1% frequency. Prevalence of abnormal genotypes estimated for each at risk category was greater in neonate hepatitis (100%), bronchitis (20%) and adult liver cirrhosis (33.3%). In conclusion, a targeted AATD detection program with this formula is feasible in Romania and will be continued with the implementation of a national registry.
Keywords:
alpha-1 antitrypsin deficiency; targeted detection; screening; rare genetic disease

Issue: 2018, Volume 69, Issue 5
Pages: 1152-1155
Publication date: 2018/6/15
https://doi.org/10.37358/RC.18.5.6279
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Creative Commons License
This article is published under the Creative Commons Attribution 4.0 International License
Citation Styles
Cite this article as:
ZAHARIE, A.M., ANTONIU, S., WYNIMKO, J.C., MIHALTAN, F.D., DELEANU, O.C., MAHLER, B., DAVIDESCU, L., ARGHIR, O.C., ULMEANU, R., Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges, Rev. Chim., 69(5), 2018, 1152-1155.

Vancouver
Zaharie AM, Antoniu S, Wynimko JC, Mihaltan FD, Deleanu OC, Mahler B, Davidescu L, Arghir OC, Ulmeanu R. Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges. Rev. Chim.[internet]. 2018 May;69(5):1152-1155. Available from: https://doi.org/10.37358/RC.18.5.6279


APA 6th edition
Zaharie, A.M., Antoniu, S., Wynimko, J.C., Mihaltan, F.D., Deleanu, O.C., Mahler, B.,... Ulmeanu, R. (2018). Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges. Revista de Chimie, 69(5), 1152-1155. https://doi.org/10.37358/RC.18.5.6279


Harvard
Zaharie, A.M., Antoniu, S., Wynimko, J.C., Mihaltan, F.D., Deleanu, O.C., Mahler, B., Davidescu, L., Arghir, O.C., Ulmeanu, R. (2018). 'Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges', Revista de Chimie, 69(5), pp. 1152-1155. https://doi.org/10.37358/RC.18.5.6279


IEEE
A.M. Zaharie, S. Antoniu, J.C. Wynimko, F.D. Mihaltan, O.C. Deleanu, B. Mahler, L. Davidescu, O.C. Arghir, R. Ulmeanu, "Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges". Revista de Chimie, vol. 69, no. 5, pp. 1152-1155, 2018. [online]. https://doi.org/10.37358/RC.18.5.6279


Text
Ana Maria Zaharie, Sabina Antoniu, Joanna Chorostowska Wynimko, Florin Dumitru Mihaltan, Oana Claudia Deleanu, Beatrice Mahler, Lavinia Davidescu, Oana Cristina Arghir, Ruxandra Ulmeanu,
Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges,
Revista de Chimie,
Volume 69, Issue 5,
2018,
Pages 1152-1155,
ISSN 2668-8212,
https://doi.org/10.37358/RC.18.5.6279.
(https://revistadechimie.ro/Articles.asp?ID=6279)
Keywords: alpha-1 antitrypsin deficiency; targeted detection; screening; rare genetic disease


RIS
TY - JOUR
T1 - Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges
A1 - Zaharie, Ana Maria
A2 - Antoniu, Sabina
A3 - Wynimko, Joanna Chorostowska
A4 - Mihaltan, Florin Dumitru
A5 - Deleanu, Oana Claudia
A6 - Mahler, Beatrice
A7 - Davidescu, Lavinia
A8 - Arghir, Oana Cristina
A9 - Ulmeanu, Ruxandra
JF - Revista de Chimie
JO - Rev. Chim.
PB - Revista de Chimie SRL
SN - 2668-8212
Y1 - 2018
VL - 69
IS - 5
SP - 1152
EP - 1155
UR - https://doi.org/10.37358/RC.18.5.6279
KW - alpha-1 antitrypsin deficiency
KW - targeted detection
KW - screening
KW - rare genetic disease
ER -


BibTex
@article{RevCh2018P1152,
author = {Zaharie Ana Maria and Antoniu Sabina and Wynimko Joanna Chorostowska and Mihaltan Florin Dumitru and Deleanu Oana Claudia and Mahler Beatrice and Davidescu Lavinia and Arghir Oana Cristina and Ulmeanu Ruxandra},
title = {Romanian Pilot Study of Alpha-1 Antitrypsin Detection-Feasibility and Challenges},
journal = {Revista de Chimie},
volume = {69},
number = {5},
pages = {1152-1155},
year = {2018},
issn = {2668-8212},
doi = {https://doi.org/10.37358/RC.18.5.6279},
url = {https://revistadechimie.ro/Articles.asp?ID=6279}
}
 
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