Le déficit en alpha-1-antitrypsine

Bouchecareilh, Marion

doi:10.1051/medsci/20143010016

Cited by 4 publications

(2 citation statements)

References 51 publications

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“…It prevents neutrophil elastase from breaking down connecting tissue. (1,10,11) Deficiency of AAT(AATD) is autosomal codominant condition caused by point mutation in SERPINA1. The most commonly mutation causing AAT deficiency include the S and the Z alleles leading to missfolded α1-antitrypsin accumulation in hepatocytes and low circulating level of this protein.…”

Section: Etiologymentioning

confidence: 99%

“…It has demonstrated reduction of the lung density loss measured by computer tomography, but it failed to show improvement in lung function, exacerbation frequency or quality of life. (6,9,23) Although the therapy remains controversial, it has been approved by many national authorities and drug administrations (11,(24)(25)(26) In liver disease promising results were found with use of Fazirsiran -a RNA-interfering drug, which is able to reduce the production of abnormal alpha-1 antitrypsin. The drug appears to be very well-tolerated with no adverse effects.…”

Section: Treatmentmentioning

confidence: 99%

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Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

Kościołek,

Urbaś,

Kępczyk

et al. 2024

J Educ Health Sport

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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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Section: Etiologymentioning

confidence: 99%