Department of Respiratory and Critical Care Medicine, 117913Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
74655North Sichuan Medical College, Nanchong, China.
Chron Respir Dis. 2020 Jan-Dec;17:1479973120961847. doi: 10.1177/1479973120961847.
Diffuse panbronchiolitis (DPB) is a chronic diffuse airway inflammatory disease, which is strongly associated with the class I human leukocyte antigen (HLA) alleles. Here, we report a pair of sisters who have been suffering from chronic cough, expectoration and wheezing for many years. They were previously misdiagnosed as chronic bronchitis and bronchial asthma, and were recently diagnosed as diffuse panbronchiolitis. The 36-year-old elder sister suffered from diffuse panbronchiolitis complicated with pulmonary tuberculosis. The 30-year-old younger sister suffered from diffuse panbronchiolitis complicated with bronchial asthma and bronchiectasis. We have performed HLA genotyping research on the two sisters, their parents and younger brother. The results showed that all family members were positive for HLA-A24 and HLA-B13. The younger sister and mother were positive for HLA-A2. The younger brother and father were positive for HLA-A11. We suspect that the two sisters' disease susceptibility may be caused by their parents' consanguineous marriage. In this study, we reported the clinical characteristics of the two sisters with diffuse panbronchiolitis and shared the associated HLA genotyping results of this family cluster, hoping to provide reference for the etiology, diagnosis and treatment of this disease.
弥漫性泛细支气管炎（DPB）是一种慢性弥漫性气道炎症性疾病，与 I 类人类白细胞抗原（HLA）等位基因密切相关。在这里，我们报告了一对姐妹，她们多年来一直患有慢性咳嗽、咳痰和喘息。她们之前被误诊为慢性支气管炎和支气管哮喘，最近被诊断为弥漫性泛细支气管炎。36 岁的姐姐患有弥漫性泛细支气管炎合并肺结核。30 岁的妹妹患有弥漫性泛细支气管炎合并支气管哮喘和支气管扩张。我们对两姐妹、他们的父母和弟弟进行了 HLA 基因分型研究。结果表明，所有家庭成员均为 HLA-A24 和 HLA-B13 阳性。妹妹和母亲为 HLA-A2 阳性。弟弟和父亲为 HLA-A11 阳性。我们怀疑两姐妹的疾病易感性可能是由父母近亲结婚引起的。在本研究中，我们报告了两姐妹弥漫性泛细支气管炎的临床特征，并分享了该家族群的相关 HLA 基因分型结果，希望为该病的病因、诊断和治疗提供参考。
