Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands.
J Infect. 2012 Jun;64(6):609-12. doi: 10.1016/j.jinf.2012.02.010. Epub 2012 Feb 23.
We present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.
我们报告了一例肺非结核分枝杆菌感染（PNTM）合并脓肿分枝杆菌感染。在排除已知导致 NTM 易感性的遗传免疫性疾病后，我们发现 CFTR 存在 F508del 和 R117H 两种突变的复合杂合性。F508del 与功能减弱的 CFTR 突变的组合可导致 CF 表型轻度，成年后 CF 症状出现延迟。尽管该患者在 20 多年的时间里一直由不同的医生持续治疗肺部感染，但 CF 的诊断却被忽视了。在分析导致 PNTM 的宿主因素时，应考虑 CF 的顿挫型。
