Alpha-1-antitrypsin deficiency in a 44-year-old patient
https://doi.org/10.18093/0869-0189-2025-35-6-902-908
Abstract
Alpha-1-antitrypsin (А1АТ) deficiency is a genetically determined disease caused by a mutation in the SERPINA1 (serpin peptidase inhibitor, clade A) gene responsible for А1АТ synthesis. The clinical manifestations are bronchial asthma with fixed obstruction, panacinar emphysema or bronchiectasis, and liver damage. There are several types of SERPINA1 gene alleles: normal PiMM, deficient (with insufficient А1АТ secretion from the liver into the blood due to polymerization) PiSS and PiZZ, null (with complete absence of A1AT in the blood) PiNulNul, alleles with normal amount but impaired function of А1АТ, such as Pittsburgh.
The aim of our work was to demonstrate the course of А1АТ deficiency in a patient at the age of 40. The peculiarity of the course of the disease in our patient is also the absence of liver damage, and such damage is usually a frequent manifestation of α 1-antitrypsin deficiency in the case of a mutation with the Pi*ZZ allele. Causative therapy with an α1-proteinase inhibitor was initiated and the patient’s clinical symptoms stabilized.
Conclusion. It is important to inform physicians of various specialties about А1АТ deficiency in order to accelerate the initiation of necessary causative therapy, which helps improve the patient’s condition and prevent the development of severe complications.
About the Authors
M. D. Iarovoi
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation
Russian Federation
Competing Interests:
Russian Federation
Maksim D. Iarovoi, 5th year Student
ul. Ostrovityanova 1, Moscow, 117997, tel.: (919) 253-81-41
Competing Interests:
No conflict of interest was declared by the authors.
E. V. Reznik
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation ; Joint Stock Company “MEDSI Group of Companies” ; State Budgetary Healthcare Institution of the Moscow City “City Clinical Hospital No.31 named after Academician G.M.Savelyeva, Moscow Department of Healthcare”
Russian Federation
Competing Interests:
Russian Federation
Elena V. Reznik, Doctor of Medicine, Associate Professor, Head of the Department of Propaedeutics of Internal Diseases, Faculty of Medicine; Cardiologist, Functional Diagnostics Physician; General Practitioner, Ultrasound Diagnostics Physician, Clinical Pharmacologist
Researcher ID: N-6856-2016
ul. Ostrovityanova 1, Moscow, 117997
ul. Krasnaya Presnya 16, Moscow, 123242
ul. Lobachevskogo 42, Moscow, 119514, tel.: (499) 936-99-50
Competing Interests:
No conflict of interest was declared by the authors.
A. S. Grigorievskaya
Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation ; Joint Stock Company “MEDSI Group of Companies”
Russian Federation
Competing Interests:
Russian Federation
Aleksandra S. Grigorievskaya, General Practitioner, Head; Assistant, Department of Propaedeutics of Internal Medicine No.2, Institute of Clinical Medicine
ul. Ostrovityanova 1, Moscow, 117997, tel.: (915) 102-50-19
ul. Krasnaya Presnya 16, Moscow, 123242
Competing Interests:
No conflict of interest was declared by the authors.
S. A. Zavialova
Joint Stock Company “MEDSI Group of Companies”
Russian Federation
Competing Interests:
Russian Federation
Svetlana A. Zavialova, Pulmonologist
ul. Krasnaya Presnya 16, Moscow, 123242, tel.: (903) 243-53-92
Competing Interests:
No conflict of interest was declared by the authors.
O. I. Makolin
Joint Stock Company “MEDSI Group of Companies”
Russian Federation
Competing Interests:
Russian Federation
Oleg I. Makolin, Head of the Department of Radiation Diagnostics
ul. Krasnaya Presnya 16, Moscow, 123242, tel.: (495) 755-58-75
Competing Interests:
No conflict of interest was declared by the authors.
I. V. Semeniakin
Joint Stock Company “MEDSI Group of Companies”
Russian Federation
Competing Interests:
Russian Federation
Igor V. Semeniakin, Doctor of Medicine, Professor, Medical Director
ul. Krasnaya Presnya 16, Moscow, 123242, tel.: (495) 223-52-45
Competing Interests:
No conflict of interest was declared by the authors.
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For citations:
Iarovoi M.D., Reznik E.V., Grigorievskaya A.S., Zavialova S.A., Makolin O.I., Semeniakin I.V. Alpha-1-antitrypsin deficiency in a 44-year-old patient. PULMONOLOGIYA. 2025;35(6):902-908. (In Russ.) https://doi.org/10.18093/0869-0189-2025-35-6-902-908
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