Lepiorz Marc, Baier Julius, Veith Martina, Greulich Timm, Pfeifer Michael
Department of Pneumology, Krankenhaus Barmherzige Brüder, Regensburg, Germany.
University Medical Center Giessen and Marburg, Philipps University, Department of Medicine, Pulmonary and Critical Care Medicine, Member of the German Center for Lung Research, (DZL), Marburg, Germany.
Respir Med Case Rep. 2024 Aug 28;51:102097. doi: 10.1016/j.rmcr.2024.102097. eCollection 2024.
This report describes family members with alpha-1 antitrypsin (AAT) deficiency arising from two rare alleles of - p.(Phe76del) and p.(Asp280Val) along with the more common deficiency allele, PiZ. The index case, a 51-year-old female presented with cough, bloody sputum, fever, weight loss and night sweats. In addition to a respiratory infection, scans revealed bronchiectasis and bronchiolitis without emphysema. Her AAT level was 30 mg/dL and genetic testing revealed a PiZ/p.(Phe76del) genotype. Follow up testing of her relatives revealed the rare p.(Asp280Val) variant as well. AAT deficiency remains underdiagnosed. Early detection and intervention could improve quality of life and outcomes.
本报告描述了因两种罕见等位基因——p.(Phe76del)和p.(Asp280Val)以及更常见的缺陷等位基因PiZ导致的α-1抗胰蛋白酶（AAT）缺乏症的家庭成员。索引病例是一名51岁女性，表现为咳嗽、咯血、发热、体重减轻和盗汗。除呼吸道感染外，扫描显示有支气管扩张和细支气管炎，但无肺气肿。她的AAT水平为30mg/dL，基因检测显示为PiZ/p.(Phe76del)基因型。对其亲属的后续检测也发现了罕见的p.(Asp280Val)变异。AAT缺乏症仍未得到充分诊断。早期检测和干预可以改善生活质量和预后。
