AAT deficiency

10/01/2010 - "While this therapy likely slows the rate of progression of emphysema and may improve survival in selected individuals with severe AAT deficiency, the gold standard for proof of efficacy is lacking. "
01/01/2013 - "Patients with end-stage emphysema because of α-1 antitrypsin (AAT) deficiency represent a challenging clinical management problem, and studies of volume reduction therapy to date have largely excluded these patients. "
01/01/2010 - "The overall results of the combined analysis of 2 separate trials of comparable design, and the only 2 controlled clinical trials completed to date, has confirmed that IV AAT augmentation therapy significantly reduces the decline in lung density and may therefore reduce the future risk of mortality in patients with AAT deficiency-related emphysema. "
12/01/2009 - "The EXACTLE study assessed the development of emphysema by means of CT densitometry in 77 patients with severe AAT deficiency over a period of 2.5 years. "
03/01/2001 - "A randomized, double-blind, placebo controlled trial of monthly replacement therapy over three years in 56 exsmokers with severe AAT deficiency and moderate emphysema showed a trend (P=0.07) favouring slower progression of emphysema by computed tomography scan in the group receiving AAT replacement. "

07/01/2003 - "A 39-year-old female patient, an ex-smoker with an 8-pack-year smoking history and severe pulmonary emphysema of early onset, received a diagnosis of alpha(1)-antitrypsin (AAT) deficiency and proved to be a carrier of a new deficient variant, YBARCELONA, derived from the normal M1 variant with two substitutions: one in exon III and the other in exon V. AAT genotype of eight members of the same family and study of lung function of the index case and family members at baseline and after 6 years of follow-up were performed. "
04/01/2015 - "Alpha-1-antitrypsin (AAT) deficiency is a genetic risk factor for pulmonary emphysema. "
03/01/2014 - "Alpha1-antitrypsin (AAT) deficiency was first described in 1963 together with its associations with severe early-onset basal panacinar emphysema. "
01/01/2012 - "Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema. "
10/01/2011 - "Chest computed tomography revealed panlobular emphysema in both lungs, which suggested AAT deficiency. "

03/01/2003 - "In AAT deficiency, augmentation therapy is not more effective in preventing the loss of lung function in those with asthma compared to those without."
01/01/2013 - "The prevalence of AAT deficiency was low in patients with severe persistent asthma. "
12/01/2008 - "A young Caucasian female with severe bronchial asthma and Alpha1-antitrypsin (AAT) deficiency, MZ phenotype, experienced a quick and severe limitation of her physical capacity, which negatively affected her psychological state and social life, though she was under a strong antiasthmatic treatment. "
03/01/2003 - "Symptoms and signs of asthma are common in AAT deficiency and may start at the age of most rapid FEV(1) loss. "
03/01/2003 - "Asthma may be common in those with AAT deficiency, and may lead to accelerated airflow obstruction. "

11/01/2005 - "Optimal therapy for AAT deficiency will require a high percentage of hepatocyte transduction to be effective for liver and lung disease. "
03/01/2015 - "Large strides in gene therapy for AAT deficiency lung disease have led to the development of rAAV1-AAT capable of producing sustained serum AAT levels in clinical trials after intramuscular administration in humans at 3% of the target level. "
12/01/2010 - "The review covers the history of discovery of the nature and role of A1AT deficiency with particular emphasis on the pathophysiology of the lung disease. "
12/01/2010 - "These results provide new insight into the mechanism underlying the effect of AAT augmentation therapy in the pulmonary disease associated with AAT deficiency."
01/01/2010 - "Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease. "

06/01/2014 - "We describe a patient who presented with the classic clinical findings of AAT deficiency-associated panniculitis with surprising absence of panniculitis on repeated deep incisional biopsies. "
06/01/2014 - "Patients with α₁-antitrypsin (AAT) deficiency may develop cutaneous manifestations of the disorder that histologically appear as panniculitis. "
01/01/2014 - "Panniculitis is a recognized, but rare complication of α1-antitrypsin (A1AT) deficiency. "
01/01/2009 - "The current report presents a 31-year-old woman with PiZZ AAT deficiency-associated panniculitis. "
02/15/1997 - "Here we describe two patients with homozygous A1AT deficiency who developed panniculitis and were successfully treated with A1AT replacement. "