Lin Jing-Jing, Liu Xu-Hui, Xia Lu, Feng Yan-Ling, Xi Xiu-Hong, Lu Shui-Hua
Shanghai Public Health Clinical Center, Fudan University, Shanghai, China.
BMC Pediatr. 2021 May 4;21(1):218. doi: 10.1186/s12887-021-02671-7.
Niemann-Pick C disease is a rare autosomal recessive lysosomal lipid storage disorder. Some primary immunodeficiency diseases patients developed regional disease or disseminated disease after vaccinating BCG. It is unclear whether NPC gene deficiency is associated with Mycobacteria infection.
We report and discuss a case of a child who presented at the age of 6 months with NPC1 and BCG-itis. The patient was treated with Miglustat and the symptom of lymphadenopathy was improved.
We reasonably speculate that NPC1 is a susceptibility gene of Mtb infection and mainly affects innate immunity. Once diagnosed, the infant should not be vaccinated with BCG and early treated.
尼曼-匹克C病是一种罕见的常染色体隐性溶酶体脂质贮积症。一些原发性免疫缺陷病患者接种卡介苗后出现局部疾病或播散性疾病。目前尚不清楚NPC基因缺陷是否与分枝杆菌感染有关。
我们报告并讨论了一名6个月大时出现NPC1和卡介苗相关炎症的患儿病例。患者接受了米格鲁司他治疗，淋巴结病症状得到改善。
我们合理推测NPC1是结核分枝杆菌感染的易感基因，主要影响固有免疫。一旦确诊，婴儿不应接种卡介苗并应尽早治疗。
