The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis
Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2024-02-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | https://apcz.umk.pl/JEHS/article/view/48340 |
| _version_ | 1797300994759983104 |
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| author | Dawid Kościołek Michał Urbaś Martyna Kępczyk Aleksandra Kościołek Kaja Surowiecka Jakub Misiak Miłosz Ojdana Konrad Szalbot Mikołaj Tokarski Natalia Marczak |
| author_facet | Dawid Kościołek Michał Urbaś Martyna Kępczyk Aleksandra Kościołek Kaja Surowiecka Jakub Misiak Miłosz Ojdana Konrad Szalbot Mikołaj Tokarski Natalia Marczak |
| author_sort | Dawid Kościołek |
| collection | DOAJ |
| description |
Introduction:
Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin gene lead to production of misfolded AAT resulting in impaired release into the blood. This disorder leads to destruction of connecting tissue especially in lungs and to accumulation of retarded protein in the liver.
Purpose:
Most studies addressing AAT deficiency focus on presenting symptoms related to the lungs and liver. We want to take a broader look at this issue, so we have closely examined scientific reports on the presentation of the disease in organs other than the lungs and liver. The goal is to gather holistic knowledge about the disease to enhance awareness and treatment.
Material and methods:
In our paper, we endeavored to address the issue of AAT deficiency comprehensively. We explored symptoms with an emphasis on organs beyond the liver and lungs. We also delved into the etiology, diagnosis, treatment, and prognosis of this disease.
Discussion:
The clinical symptoms of alpha 1 antitrypsin deficiency extending beyond the liver and lungs remain inadequately described. We know that AAT deficiency can lead to excessive destruction of connective tissue in any organ, not just the lungs and liver. Unfortunately, this condition continues to go undiagnosed, and the number of scientific publications on symptoms from other organs is too limited. This affects the insufficient attention given by doctors to tissue destruction in organs other than the lungs and liver.
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| first_indexed | 2024-03-07T23:15:57Z |
| format | Article |
| id | doaj.art-677bf7bd90444c57aa87695516184974 |
| institution | Directory Open Access Journal |
| issn | 2391-8306 |
| language | English |
| last_indexed | 2024-03-07T23:15:57Z |
| publishDate | 2024-02-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj.art-677bf7bd90444c57aa876955161849742024-02-21T11:52:50ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062024-02-016110.12775/JEHS.2024.61.013The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosisDawid Kościołek0Michał Urbaś1Martyna Kępczyk2Aleksandra Kościołek3Kaja Surowiecka4Jakub Misiak5Miłosz Ojdana6Konrad Szalbot7Mikołaj Tokarski8Natalia Marczak9Medical University of LodzStefan Zeromski Specialist HospitalMedical University of LodzMedical University of LodzStudent Research Club of Orthopedics and Traumatology, Medical University of LublinDepartment of Pathology, Chair of Oncology, Medical University of LodzMilitary Medical Academy Memorial Teaching Hospital – Central Veterans’ HospitalMedical University of LodzMedical University of LodzPoznan University of Medical Sciences Collegium Maius Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin gene lead to production of misfolded AAT resulting in impaired release into the blood. This disorder leads to destruction of connecting tissue especially in lungs and to accumulation of retarded protein in the liver. Purpose: Most studies addressing AAT deficiency focus on presenting symptoms related to the lungs and liver. We want to take a broader look at this issue, so we have closely examined scientific reports on the presentation of the disease in organs other than the lungs and liver. The goal is to gather holistic knowledge about the disease to enhance awareness and treatment. Material and methods: In our paper, we endeavored to address the issue of AAT deficiency comprehensively. We explored symptoms with an emphasis on organs beyond the liver and lungs. We also delved into the etiology, diagnosis, treatment, and prognosis of this disease. Discussion: The clinical symptoms of alpha 1 antitrypsin deficiency extending beyond the liver and lungs remain inadequately described. We know that AAT deficiency can lead to excessive destruction of connective tissue in any organ, not just the lungs and liver. Unfortunately, this condition continues to go undiagnosed, and the number of scientific publications on symptoms from other organs is too limited. This affects the insufficient attention given by doctors to tissue destruction in organs other than the lungs and liver. https://apcz.umk.pl/JEHS/article/view/48340alpha1-antitrypsinalpha-1-antitrypsine deficiencyCOPDcirrhosis |
| spellingShingle | Dawid Kościołek Michał Urbaś Martyna Kępczyk Aleksandra Kościołek Kaja Surowiecka Jakub Misiak Miłosz Ojdana Konrad Szalbot Mikołaj Tokarski Natalia Marczak The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis Journal of Education, Health and Sport alpha1-antitrypsin alpha-1-antitrypsine deficiency COPD cirrhosis |
| title | The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_full | The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_fullStr | The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_full_unstemmed | The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_short | The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis |
| title_sort | alpha 1 antitrypsin deficiency etiology symptoms in various organs diagnosis treatment prognosis |
| topic | alpha1-antitrypsin alpha-1-antitrypsine deficiency COPD cirrhosis |
| url | https://apcz.umk.pl/JEHS/article/view/48340 |
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