Barjaktarevic Igor Z, Hong Andrew W, Hoover Alyssa, Nelson Stanley, Isse Said, Yoon Semi, Brantley Mark
Division of Pulmonary and Critical Care Medicine, University of California, Los Angeles, California, United States.
Department of Medicine, University of California, Los Angeles, California, United States.
Chronic Obstr Pulm Dis. 2024 Nov 22;11(6):624-629. doi: 10.15326/jcopdf.2024.0518.
Alpha-1 antitrypsin (AAT) deficiency is an autosomal codominant disorder caused by gene mutations. PIZ and PIS mutations commonly underlie this deficiency, but rarer homozygous PI* (Q0) mutations may result in a complete loss of AAT. Such rare mutations lead to severe AAT deficiency and early onset of lung disease. We present a case of a 35-year-old female never-smoker born to consanguineous parents who developed severe panlobular emphysema and end-stage respiratory insufficiency requiring lung transplantation. Subsequent genetic testing identified her as homozygous for a novel mutation-here named Q0 based on the region of the primary carrier's origin-which resulted in undetectable levels of the AAT protein.
α1抗胰蛋白酶（AAT）缺乏症是一种由基因突变引起的常染色体共显性疾病。PIZ和PIS突变通常是这种缺乏症的基础，但罕见的纯合PI*（Q0）突变可能导致AAT完全缺失。这种罕见突变会导致严重的AAT缺乏症和肺部疾病的早发。我们报告了一例35岁从不吸烟的女性病例，其父母为近亲结婚，该女性患严重全小叶型肺气肿和终末期呼吸功能不全，需要进行肺移植。随后的基因检测确定她为一种新突变的纯合子——基于主要携带者的起源区域在此命名为Q0——这导致AAT蛋白水平检测不到。
