PDF(Pubmed)
Abstract：
UNASSIGNED: X-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disorder characterized by recurrent infections, severe hypogammaglobulinemia, and a deficiency of circulating B cells. While the hallmark clinical manifestations of XLA typically include the respiratory, dermatological, and gastrointestinal systems, renal involvement is infrequent. In this article, we report two cases of XLA with concurrent renal disease, supplemented with a review of documented cases.
UNASSIGNED: The two cases described involve twin brothers, both presenting with respiratory tract infections and renal manifestations. Subsequent genetic testing confirmed the diagnosis of XLA. The younger brother exhibited improvement following intravenous immunoglobulin (IVIG) therapy and anti-infection treatment. Due to financial constraints, the older brother received only anti-infection and symptomatic treatments. Seven months after discharge, the older brother developed nephritis. However, he showed improvement following IVIG treatment.
UNASSIGNED: Immune profiling and genetic testing should be considered in male children with recurrent infections to facilitate the effective diagnosis of XLA. Regular monitoring is also imperative to detect and treat immune-mediated renal diseases in patients with XLA.
UNASSIGNED: The two cases described involve twin brothers, both presenting with respiratory tract infections and renal manifestations. Subsequent genetic testing confirmed the diagnosis of XLA. The younger brother exhibited improvement following intravenous immunoglobulin (IVIG) therapy and anti-infection treatment. Due to financial constraints, the older brother received only anti-infection and symptomatic treatments. Seven months after discharge, the older brother developed nephritis. However, he showed improvement following IVIG treatment.
UNASSIGNED: Immune profiling and genetic testing should be considered in male children with recurrent infections to facilitate the effective diagnosis of XLA. Regular monitoring is also imperative to detect and treat immune-mediated renal diseases in patients with XLA.
摘要：
■X-连锁无丙种球蛋白血症（XLA）是一种以反复感染为特征的体液免疫缺陷疾病，严重的低丙种球蛋白血症,循环B细胞缺乏.虽然XLA的标志性临床表现通常包括呼吸道，皮肤病学,和胃肠系统，肾脏受累是罕见的。在这篇文章中,我们报告了两例XLA并发肾脏疾病，补充了对记录在案的案例的审查。
■所描述的两个案例涉及孪生兄弟，均表现为呼吸道感染和肾脏表现。随后的基因检测证实了XLA的诊断。弟弟在静脉注射免疫球蛋白（IVIG）治疗和抗感染治疗后表现出改善。由于资金紧张,哥哥只接受了抗感染和对症治疗。出院后七个月,哥哥患上了肾炎。然而,他在IVIG治疗后表现出改善。
■对于复发性感染的男性儿童，应考虑进行免疫分析和基因检测，以促进XLA的有效诊断。定期监测对于检测和治疗XLA患者的免疫介导的肾脏疾病也是必要的。
■所描述的两个案例涉及孪生兄弟，均表现为呼吸道感染和肾脏表现。随后的基因检测证实了XLA的诊断。弟弟在静脉注射免疫球蛋白（IVIG）治疗和抗感染治疗后表现出改善。由于资金紧张,哥哥只接受了抗感染和对症治疗。出院后七个月,哥哥患上了肾炎。然而,他在IVIG治疗后表现出改善。
■对于复发性感染的男性儿童，应考虑进行免疫分析和基因检测，以促进XLA的有效诊断。定期监测对于检测和治疗XLA患者的免疫介导的肾脏疾病也是必要的。
