α-1抗胰蛋白酶缺乏继发的肾病综合征
Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency.
作者信息
Santos Gabriela F, Ellis Paul, Farrugia Daniela, Turner Alice M
机构信息
Pneumonology Department, Hospital Garcia de Orta EPE, Almada, Portugal.
Respiratory Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
出版信息
BMJ Case Rep. 2021 Mar 5;14(3):e240288. doi: 10.1136/bcr-2020-240288.
Abstract
We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, with early-onset emphysema. Nephropathy due to AATD is still very rare and only a few cohort studies have been reported. It has been recognised that alpha-1 antitrypsin has a protective role in the kidneys which enhances the possibility of development of kidney failure, such as nephrotic syndrome, in cases of AATD. Further clinical investigation is needed to understand the relationship between the development of nephropathy, namely membranous nephropathy, and AATD.
摘要
我们报告了一名64岁的白种女性，她被诊断为继发于α-1抗胰蛋白酶缺乏症（AATD）的膜性肾病。AATD是一种罕见的常染色体共显性遗传病。其临床表现大多出现在肺部，表现为早发性肺气肿。由AATD引起的肾病仍然非常罕见，仅有少数队列研究被报道。人们已经认识到，α-1抗胰蛋白酶在肾脏中具有保护作用，这增加了AATD患者出现肾衰竭（如肾病综合征）的可能性。需要进一步的临床研究来了解肾病（即膜性肾病）的发生与AATD之间的关系。
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