Alpha-1-antitrypsin deficiency

被引：37

作者：

Bals, Robert ^{[1
]}

机构：

[1] Hosp Univ Saarland, Dept Pulmonol, D-66421 Homburg, Germany

来源：

BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY | 2010年 / 24卷 / 05期

关键词：

Alpha-1-antitrypsin; Protease; Antiprotease; Liver disease; Chronic obstructive; pulmonary disease (COPD); ALPHA(1)-ANTITRYPSIN DEFICIENCY; MUTANT ALPHA(1)-ANTITRYPSIN-Z; ENDOPLASMIC-RETICULUM; LIVER-DISEASE; DIAGNOSIS;

D O I：

10.1016/j.bpg.2010.08.006

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Alpha-1-antitrypsin deficiency (MID) is a rare genetic disorder associated with the development of liver and lung disease AAT is a 52-kD glycoprotein produced mainly by hepatocytes and secreted into the blood Agglomeration of the AAT-protein in hepatocytes can result in liver disease Exposure to smoke is the major risk factor for the development of lung disease characterised as early chronic obstructive lung disease (COPD) Diagnosis is based on the analysis of the AAT genotype and phenotype The measurement of the AAT serum level is useful as screening test Liver biopsy is not necessary to establish the diagnosis Therapy for AAT-related liver disease is supportive a specific therapy is not available MID is a rare condition (1 5000-10000) and as a consequence data and information on diagnosis and treatment are not easily accessible This chapter provides a comprehensive overview on AATD covering basic biology diagnostic and therapeutic approaches (C) 2010 Elsevier Ltd All rights reserved

引用

页码：629 / 633

页数：5

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