alpha 1 antitrypsin deficiency

alpha 1 antitrypsin deficiency

An inherited condition (frequency, ±1:10,000) characterised by low or absent production of alpha-1 antitrypsin, an enzyme which is critical to tissue remodelling.
Clinical findings The PiZZ phenotype is characterised by early-onset emphysema and liver-related symptoms, including jaundice, cholestasis, fatigue, cirrhosis, liver failure, ascites, panniculitis, mental changes, GI bleeding, and increased risk of primary liver cancer.
Genetics The A1AT gene is co-dominantly inherited and located on chromosome 14. It encodes 25 different allelic forms, which are classified according to electrophoretic mobility, of which the PiMM phenotype is normal; the most common A1AT deficiency phenotype is PiZZ.
Management IV or nebulised prolastin if COPD (chronic obstructive pulmonary disease), for direct delivery to lungs; alpha-1 proteinase inhibitor; O2, antibiotics, phenobarbital or cholestyramine for jaundice and itching, liver transplant.
References in periodicals archive ?
Summary: Looking at the current market trends as well as the promising demand status of the "Alpha 1 Antitrypsin Deficiency Treatment Market", it can be projected that the future years will bring out positive outcomes.
Biotherapeutics company CSL Behring reported on Thursday the receipt of US Food and Drug Administration (FDA) approval in 4- and 5-gram vial sizes for ZEMAIRA [Alpha1-Proteinase Inhibitor (Human)]therapy for treating Alpha 1 Antitrypsin Deficiency (Alpha 1).
The tot, from Longbenton, North Tyneside, suffers from a rare genetic condition called alpha 1 antitrypsin deficiency (AATD).
Simon Owens and Karly Embleton were completely unaware that they were carriers of alpha 1 antitrypsin deficiency (AATD) until it struck down their child Evie.
The lady was suffering from alpha 1 antitrypsin deficiency. This, in turn, could cause emphysema, cirrhosis of the liver and heart damage.
A hereditary condition known as Alpha 1 Antitrypsin Deficiency is causing her lungs to deteriorate.
But it won't cure her of Alpha 1 Antitrypsin Deficiency, which has also affected her liver.
Alpha 1 proteinase inhibitor is intended for therapy of congenital alpha 1 antitrypsin deficiency, which leads to emphysema.
She suffers from Alpha 1 antitrypsin deficiency (alpha 1 ATD) which traps a protein in her liver and causes irreversible scarring.
Alpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for pi type Z.
Two congenital disorders, alpha 1 antitrypsin deficiency and tyrosinemia, may lead to primary liver cancer.
Simon Owens and Karly Embleton were completely unaware they were carriers of alpha 1 antitrypsin deficiency until it struck down their child Evie.