Mosella Marco, Accardo Mariasofia, Molino Antonio, Maniscalco Mauro, Zamparelli Alessandro Sanduzzi
Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
Department of Respiratory Diseases, Division of Pneumology, University of Naples Federico II, AORN dei Colli-Monaldi Hospital, Naples, Italy.
Ann Thorac Med. 2018 Jan-Mar;13(1):59-61. doi: 10.4103/atm.ATM_234_17.
Alpha-1 antitrypsin deficiency is a rare and often underdiagnosed hereditary disorder, which mainly affects the Caucasian population. We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum alpha-1-antitrypsin (AAT) level, in the absence of the most common defective alleles associated with AAT deficiency (PIS and PIZ) but with a new mutation in heterozygosis. This mutation is characterized by the substitution in the coding region of exon 3, of a guanine (G) for a thymine (T), generating the replacement of a glutamine (Gln) by a histidine (His) in codon 212 (cod 212 GlnCAG > HisCAT), corresponds to a new S allelic variant. This mutation, never identified before, is called S-Napoli.
α-1抗胰蛋白酶缺乏症是一种罕见且常被漏诊的遗传性疾病，主要影响白种人群体。我们报告了一例非囊性纤维化支气管扩张患者，该患者无肺气肿，血清α-1抗胰蛋白酶（AAT）水平低，不存在与AAT缺乏相关的最常见缺陷等位基因（PIS和PIZ），但存在杂合子新突变。该突变的特征是外显子3编码区的鸟嘌呤（G）被胸腺嘧啶（T）取代，导致密码子212处的谷氨酰胺（Gln）被组氨酸（His）取代（密码子212 GlnCAG > HisCAT），对应一个新的S等位基因变体。这种以前从未发现过的突变被称为S-那不勒斯突变。
