Immunological changes and liver disease associated with alpha-1 -antitrypsin deficiency. A female aged 60 years with heterozygous alpha-1-antitrypsin deficiency developed a progressive and ultimately fatal liver
Alpha-1 antitrypsin deficiency (AATD) arises from mutations in the SERPINA1 gene encoding alpha-1 antitrypsin (AAT) that lead to AAT retention in the endoplasmic reticulum of hepatocytes, causing proteotoxic liver injury and loss-of-function lung disease. The homozygous Pi∗Z mutation (Pi∗ZZ ...
Alpha-1 antitrypsin deficiency associated liver disease (AATD-LD) is a leading genetic cause of liver disease, yet it remains largely underdiagnosed and poorly understood. This encore webinar from a live symposium will feature a multispecialty panel of experts who will...
INTRODUCTION: Alpha-1-antitrypsin deficiency (AATD) is an orphan disease that predisposes individuals to COPD and liver disease. The following is a comprehensive review of AATD from epidemiology to treatment for physicians who treat COPD or asthma. Areas covered: In this comprehensive rev...
Alpha 1 Antitrypsin (AAT) Deficiency is a genetic condition which can affect the lungs and liver. Learn more about this condition and what it means for patients.
Alpha-1抗胰蛋白酶缺乏症的英文名字是Alpha-1 antitrypsin deficiency。基因解码表明:Alpha-1抗胰蛋白酶缺乏症是一种遗传性疾病,与基因突变密切相关。Alpha-1抗胰蛋白酶是一种由SERPINA1基因编码的蛋白质,它在肝脏中合成并通过血液循环分布到全身。该蛋白质的主要功能是
Alpha-1-antitrypsinProteaseAntiproteaseLiver diseaseChronic obstructive pulmonary disease (COPDTwo disparate disease states—an adult form of emphysema and a childhood form of liver cirrhosis—have been linked to an inherited absence of this antienzyme. In their severe, homozygous forms, both conditions...
liver function testsEleven adult individuals (aged 24 to 66 years) with severe 1-antitrypsin deficiency, Pi Z. and with no clinical signs of liver disease, were investigated with a broad spectrum of liver function tests. Except for low 1-antitrypsin levels, no evidence of abnormal hepatic ...
Alpha-1 antitrypsin(抗胰蛋白酶)deficiency is a genetic disorder(遗传病)in which a protein called alpha-1antitrypsin is defective or absent, and it causes lung and liver disease. α抗胰蛋白酶缺乏症是一种遗传性疾病,患者体内的一种叫做α抗胰蛋白酶的蛋白质出现了问题或者含量减少了,最终导致肺和肝脏...
英文: Metabolic diseases such as Wilson\'s disease, hemochromatosis, and alpha 1 - antitrypsin deficiency can lead to liver damage.中文: 代谢性疾病,如威尔逊氏病,血色沉着,α-1型胰岛素缺乏症均可导致肝损伤。英文: Alpha 1-antitrypsin Matrix Attachment Region Enhances RNA PolymeraseⅡ-dependent ...