Zhu Zaihua, Kang Yuli, Lin Zhenlang, Huang Yanjing, Lv Huoyang, Li Yasong
Department of Rheumatology, Zhejiang Provincial People's Hospital, 158 Shangtang Rd, Hangzhou, 310014, Zhejiang, China.
Clin Rheumatol. 2015 Feb;34(2):397-401. doi: 10.1007/s10067-014-2537-y. Epub 2014 Feb 25.
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton's tyrosine kinase (BTK) gene. XLA can also present in combination with juvenile idiopathic arthritis (JIA), the major chronic rheumatologic disease in children. We report herein the first known case of a juvenile patient diagnosed with XLA combined with JIA that later developed into invasive Klebsiella pneumoniae polyarticular septic polyarthritis. An additional comprehensive review of XLA combined with JIA and invasive K. pneumoniae septic arthritis is also presented. XLA was identified by the detection of BTK mutations while the diagnosis of JIA was established by clinical and laboratory assessments. Septic arthritis caused by invasive K. pneumoniae was confirmed by culturing of the synovia and gene detection of the isolates. Invasive K. pneumoniae infections can not only result in liver abscesses but also septic arthritis, although this is rare. XLA combined with JIA may contribute to invasive K. pneumoniae infection.
X连锁无丙种球蛋白血症（XLA）是一种由布鲁顿酪氨酸激酶（BTK）基因突变引起的原发性免疫缺陷病。XLA也可与幼年特发性关节炎（JIA）合并出现，JIA是儿童主要的慢性风湿性疾病。我们在此报告首例已知的诊断为XLA合并JIA的青少年患者，该患者后来发展为侵袭性肺炎克雷伯菌多关节化脓性关节炎。本文还对XLA合并JIA及侵袭性肺炎克雷伯菌感染性关节炎进行了全面综述。通过检测BTK突变来确定XLA，而JIA则通过临床和实验室评估来确诊。通过滑膜培养和分离株的基因检测确诊侵袭性肺炎克雷伯菌引起的化脓性关节炎。侵袭性肺炎克雷伯菌感染不仅可导致肝脓肿，还可引起化脓性关节炎，尽管这种情况很少见。XLA合并JIA可能会导致侵袭性肺炎克雷伯菌感染。
