alpha1 antitrypsin deficiencyThe ZZ genotype of alpha-1 antitrypsin deficiency (AATD) is associated with COPD regardless of smoking. Heterozygous MZ-AATD is recognised as a moderate deficiency state, increasing the risk of COPD only among smokers. The risk attributable to SZ-AATD remains debated. ...
Possible association between the Duarte gene of galactose-1-phosphate uridyl transferase and the ZZ or SZ genotype of alpha1-antitrypsin Weitkamp LR, Schwartz RH, Cox D. LR Weitkamp,RH Schwartz,D Cox - 《Birth Defects Orig Artic Ser》 被引量: 9发表: 1976年 A Duarte Variant with Clinical...
Alpha1-antitrypsin replacement therapy controls fibromyalgia symptoms in 2 patients with PI ZZ alpha1-antitrypsin deficiency. Two Spanish sisters with alpha1-antitrypsin (AAT) deficiency and fibromyalgia (FM) started AAT replacement therapy with commercial alpha1-antitrypsin infus... I Blanco,H Canto,...
Respiratory Medicine CME 1:153–157Sandstrom CS, Pitulainen E, Janciauskiene S. Augmentation therapy in emphysema patient with ZZ α 1 -antitrypsin deficiency. Respir Med CME 2008; 1 :153–157.
Severe panniculitis caused by homozygous ZZ alpha-1 antitrypsin deficiency treated successfully with human purified enzyme (Prolastin). Br J Dermatol 2002;147:1258-1261.Chowdhury MM, Williams EJ, Morris JS, et al. Severe panniculitis caused by homozygous ZZ alpha1- antitrypsin deficiency treated ...
Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. Thorax. 1995;50:424-5.Rodriguez-Cintron W, Guntupalli K, Fraire AE. Bronchiectasis and homozygous (P1ZZ) alpha 1-antitrypsin deficiency in a young man. Thorax. 1995 Apr; 50 (4):424–425....
Characteristics of zz alpha-1 antitrypsin deficiency patients on the Irish national registrydoi:10.1164/AJRCCM-CONFERENCE.2011.183.1_MEETINGABSTRACTS.A5361Geraldine O'BrienCatherine O'ConnorTomas P. CarrollNoel G. McElvaneyEuropean Respiratory Society...
The conductivity in EBC of PiZZ-Alpha-1-antitrypsin deficiency patients with a diagnosis of emphysema (PiZZ-AATD) was 3 fold lower than in spouse controls (54.5 +/- 11.6 vs 165.3 +/- 10.7 mu S/cm). Non-PiZZ emphysema patients had conductivity in EBC of 59.6 +/- 5.8 mu S/cm and ...
A deficiency of the serum protease inhibitor, 伪1-antitrypsin (AAT), is frequently associated with chronic obstructive lung disease in adult years. About 17% of individuals with the deficiency (PI type ZZ) develop evidence of liver abnormalities in the early months, and a portion of these ...
LIVER disease diagnosisSummary Background Alpha‐1 antitrypsin deficiency (AATD) is caused by mutations in SERPINA1, which encodes alpha‐1 antitrypsin, a protease inhibitor (Pi). Individuals with AATD and the homozygous Pi*ZZ genotype have variable risk of progressive liver disease but the influence...