Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) NullNewport (Gly115?Ser) and (Pi) Z Wrexham (Ser?19?Leu)

1990 ◽  
Vol 85 (5) ◽  
Author(s):  
Alexander Graham ◽  
NoorA. Kalsheker ◽  
FionaJ. Bamforth ◽  
CliveR. Newton ◽  
AlexanderF. Markham
Keyword(s):  
Proteinase Inhibitor ◽  
Molecular Characterisation ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

scholarly journals Alpha-1 Antitrypsin Deficiency: Principles of Care

2020 ◽  
Vol 33 (6) ◽  
pp. 433
Author(s):  
Joana F. Rodrigues ◽  
Alexandra Mineiro ◽  
António Reis ◽  
David G. Ventura ◽  
Fernando Fernandez-Llimos ◽  
...  
Keyword(s):  
Proteinase Inhibitor ◽  
Clinical Care ◽  
High Standard ◽  
Access To Treatment ◽  
Presenting Symptoms ◽  
Patient Organizations ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Alpha-1 antitrypsin deficiency is an autosomal co-dominant inherited disorder that results in decreased circulating levels of alpha-1 antitrypsin (also known as alpha-1 proteinase inhibitor) and predisposes affected individuals to early onset lung and liver disease. There is currently no cure for alpha-1 antitrypsin deficiency. However, appropriate treatment and a high standard of clinical care can prevent patients from being seriously affected and having to undergo major medical interventions, such as organ transplantation. Beyond managing the symptoms associated with alpha-1 antitrypsin deficiency, alpha-1 proteinase inhibitor therapy is the only treatment for the condition’s underlying cause. Early diagnosis is important to ensure efficient therapeutic strategies and to minimize further deterioration of lung function. alpha-1 antitrypsin deficiency is under diagnosed globally, partly because the disease has no unique presenting symptoms. This document was prepared by a Portuguese multidisciplinary group and it aims to set out comprehensive principles of care for Alpha-1 antitrypsin deficiency. These include the importance of registries, the need for clinical research, the need for consistent recommendations (regarding diagnosis, treatment and monitoring), the role of reference centres, the requirement for sustained access to treatment, diagnostic and support services, and the role of patient organizations.

scholarly journals Hypersensitivity Vasculitis with Leukocytoclastic Vasculitis Associated with Alpha-1-Proteinase Inhibitor

2009 ◽  
Vol 2009 ◽  
pp. 1-6
Author(s):  
Nicola W. Mwirigi ◽  
Charles F. Thomas
Keyword(s):  
Human Plasma ◽  
Proteinase Inhibitor ◽  
Leukocytoclastic Vasculitis ◽  
Cutaneous Vasculitis ◽  
Small Vessels ◽  
Hypersensitivity Vasculitis ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin

Prolastin is a commercially available form of alpha-1-antitrypsin (AAT) that is derived from pooled human plasma and used for treatment of severe alpha-1-antitrypsin deficiency (AATD). We describe a patient with AATD who developed presumed hypersensitivity vasculitis (HV) following a Prolastin infusion. Hypersensitivity vasculitis (HV), or cutaneous vasculitis, is characterized by inflammation of the small vessels of the skin with resultant ischemia to the distally supplied areas. To our knowledge, this is the first reported case of presumed hypersensitivity vasculitis following Prolastin infusion.

Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease: Between Overlaps, Phenotypes and Illnesses

2019 ◽  
Vol 15 (2) ◽  
pp. 147-155 ◽  
Author(s):  
Alexandru Corlateanu ◽  
Serghei Covantev ◽  
Irina Caraivanova ◽  
Vlada Bodrug ◽  
Victor Botnaru ◽  
...  
Keyword(s):  
Proteinase Inhibitor ◽  
Systemic Vasculitis ◽  
Genetic Disorder ◽  
Overlap Syndrome ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin Deficiency ◽  
Alpha 1 Antitrypsin ◽  
Pi Deficiency

Alpha-1 antitrypsin deficiency (AATD) or alpha-1 antitrypsin proteinase inhibitor (α1-Pi) deficiency, is a genetic disorder leading to a higher risk of pulmonary, hepatic and other organrelated diseases. The spectrum of diseases associated with AATD is large and includes pulmonary conditions (COPD, asthma, asthma-COPD overlap syndrome, bronchiectasis, etc.) as well as extrapulmonary (liver diseases, systemic vasculitis, rheumatoid arthritis, panniculitis, multiple sclerosis, peripheral neuropathy). We present a review of AATD focusing on its connection to other conditions.

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