现在的位置: 首页临床影像, 临床话题>正文
[NEJM临床医学影像]:Alpha1-抗胰蛋白酶缺乏
2024年10月15日 临床影像, 临床话题 [NEJM临床医学影像]:Alpha1-抗胰蛋白酶缺乏已关闭评论

IMAGES IN CLINICAL MEDICINE

Alpha1-Antitrypsin Deficiency

José Maria Hernández Pérez

N Engl J Med Published August 17, 2024

DOI: 10.1056/NEJMicm2403183

A 60-year-old woman with a 15-pack-year smoking history was referred to the pulmonology clinic owing to several years of dyspnea on exertion. She had quit smoking at 43 years of age. Her father had died from emphysema. Her oxygen saturation was 93% while she was breathing ambient air. Physical examination was notable for decreased breath sounds at the lung bases. Liver biochemical tests were normal. A chest radiograph showed hyperlucency of the lung bases (Panel A, posteroanterior view). Pulmonary-function testing showed severe obstruction; bronchodilators did not result in responsiveness. High-resolution computed tomography of the chest revealed panacinar emphysema, predominantly in the lung bases (Panel B, coronal view). The serum alpha1-antitrypsin (AAT) level was 19 mg per deciliter (reference value, >90). Genotyping of SERPINA1, which encodes AAT, identified a normal M allele and the well-known Z variant. However, the severity of lung disease and the low AAT level were thought to be discordant with this apparent compound heterozygote genotype. Gene sequencing was therefore performed, and the M allele was reclassified as a null allele (QOamersfoort). Treatment with bronchodilators, inhaled glucocorticoids, and intravenous plasma-purified AAT was initiated. At 1 year of follow-up, the patient’s symptoms were stable, with a slight decrease in lung function on pulmonary-function testing.

抱歉!评论已关闭.

×
腾讯微博