Primary pulmonary emphysema due to a homozygous deficiency of alpha-1-antitrypsin (genotype ZZ) in a young man; perspectives of healthcare management
https://doi.org/10.18093/0869-0189-2014-0-6-115-121
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Abstract
This review discusses alpha-1-antitripsin (AAT) deficiency that is a wide-spread autosomal-recessive monogenic enzymopathy related to PI gene mutations. The most serious injury related to AAT deficiency is primary emphysema. A role of AAT for normal growth and functioning of the lungs as well as for occurrence of various structural and functional disorders is reviewed in the articles. The authors' own findings about AAT deficiency prevalence in Russian population are also shown. Clinical features of AAT deficiency and diagnostic methods are described. Finally, a clinical report of primary pulmonary emphysema due to congenital AAT deficiency is demonstrated.
About the Authors
T. E. Gembitskaya
ГБОУ ВПО "Первый Санкт-Петербургский государственный медицинский университет имени академика И.П.Павлова" Минздрава России; 197089, Санкт-Петербург, ул. Льва Толстого 6 / 8
Russian Federation
Russian Federation
MD, Professor, Head of Therapeutic Pulmonology Department, State Budget High-Level Educational Institution "Academician I.P.Pavlov First Saint-Petersburg State Medical University"; tel.: (812) 234-13-83
A. G. Chermenskiy
State Institution "Academician I.P.Pavlov First Saint-Petersburg State Medical University": 6 / 8, L'va Tolstogo ul., Saint-Petersburg, 197089, Russia
Russian Federation
Russian Federation
PhD, Senior Researcher, Laboratory of Inherited Mechanisms of Respiratory Diseases, Scientific Research Pulmonology Institute, State Budget High-Level Educational Institution "Academician I.P.Pavlov First Saint-Petersburg State Medical University"; tel.: (812) 234-13-83
M. M. Il'kovich
State Institution "Academician I.P.Pavlov First Saint-Petersburg State Medical University": 6 / 8, L'va Tolstogo ul., Saint-Petersburg, 197089, Russia
Russian Federation
Russian Federation
MD, Professor, Director of Scientific and Clinical Center of Interstitial and orphan diseases, Head of Chair of Pulmonology, State Budget High-Level Educational Institution "Academician I.P.Pavlov First Saint-Petersburg State Medical University"; tel.: (812) 233-82-22
S. Camprubi
Instituto Grifols SA, Barcelona, Spain: Can Guasch, 2, 08150, Parets del Valles, Barcelona, Spain
Spain
Spain
an officer of Department of Clinical Trials and Pharmaceutical supervision, Instituto Grifols SA, Barcelona, Spain; tel.: 34-935712200, fax.: 34-93-5710267
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Review
For citations:
Gembitskaya T.E., Chermenskiy A.G., Il'kovich M.M., Camprubi S. Primary pulmonary emphysema due to a homozygous deficiency of alpha-1-antitrypsin (genotype ZZ) in a young man; perspectives of healthcare management. PULMONOLOGIYA. 2014;(6):115-121. (In Russ.) https://doi.org/10.18093/0869-0189-2014-0-6-115-121
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ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)
ISSN 2541-9617 (Online)
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