不同类型戈谢病患儿感染风险差异分析

doi:10.3969/j.issn.1673-5501.2021.02.014

摘要/Abstract

摘要： 背景戈谢病是一种罕见的免疫功能异常的疾病,患儿易受到不同病原体感染,不同类型戈谢病感染特点值得关注。目的探讨不同类型的戈谢病与感染相关的临床特征,为预防相关感染提供帮助。设计病例系列报告。方法采集不同类型的戈谢病患儿反复呼吸道感染、重症肺炎发生情况,减毒活疫苗接种及其发生感染情况,外周血细胞计数,行电话随访预后(是否死亡及其原因)。主要结局指标 反复呼吸道感染、重症肺炎发生及疫苗接种后感染情况。结果重庆医科大学附属儿童医院2013年5月至2019年12月共确诊16例戈谢病患儿,男7例,女9例;1型4例,2型8例,3型4例。反复呼吸道感染4例,均为2型;1例2型患儿在接种卡介苗后发生淋巴结结核。3例失访,13例随访患儿中8例死亡,其中2型7例(4例因重症肺炎死亡,3例因反复惊厥死亡),1型1例(因心脏衰竭死亡)。结论不同类型戈谢病机体易感性、感染严重程度可能存在差异,2型戈谢病患儿接种卡介苗后有发生结核感染风险。

关键词: 戈谢病, 感染, 风险

Abstract: Background Gaucher Disease (GD) is a rare disease with abnormal immune function, which is often associated with different pathogenic infections. The clinical features of infections in different types of Gaucher disease are worthy of attention.Objective To explore the difference of susceptibility and infection severity in different types of Gaucher disease.DesignCase series report.Methods The occurrence of recurrent respiratory infections, pneumonia, severe pneumonia, live attenuated vaccination and related infections, and peripheral blood counts were collected from children with different types of Gaucher disease. Telephone follow-up was done to judge the prognosis (whether death occurred and its causes).Main outcome measures Recurrent respiratory infection, severe pneumonia, and infections after vaccination.Results From May 2013 to December 2019, 16 patients with Gaucher disease were diagnosed in Children's Hospital of Chongqing Medical University, including 7 males and 9 females. Four cases were classified as type 1, 8 cases as type 2 and 4 cases as type 3. There are 4 cases of recurrent respiratory infection with GD2 type. One GD2 type case suffered from lymph node tuberculosis after BCG vaccination. Three cases lost to follow-up, and 8 of the 13 follow-up patients died. Among the 8 dead patients, 7 patients were GD2 type, 4 of which died of respiratory tract infection and 3 of which died of nervous system disease, and the remaining one case was GD1 type who died of heart disease.Conclusion There are differences in the susceptibility and infection severity among different types of Gaucher disease. Children with type 2 Gaucher disease are at risk of tuberculosis infection after BCG vaccination.

Key words: Gaucher disease, Infection, Risk

吴小英, 甘川, 许红梅, 张祯祯. 不同类型戈谢病患儿感染风险差异分析[J]. 中国循证儿科杂志, 2021, 16(2): 152-155.

WU Xiaoying, GAN Chuan, XU Hongmei, ZHANG Zhengzheng. Infection risk analysis in different types of Gaucher disease[J]. Chinese Journal of Evidence-Based Pediatrics, 2021, 16(2): 152-155.

参考文献

[1] CASTANEDA J A, LIM M J, COOPER J D, et al. Immune system irregularities in lysosomal storage disorders. Acta Neuropathol, 2008, 115(2): 159-174.
[2] PANDEY M K, GRABOWSKI G A. Immunological cells and functions in Gaucher disease. Crit Rev Oncog, 2013, 18(3): 197-220.
[3] RIGANTE D, CIPOLLA C, BASILE U, et al. Overview of immune abnormalities in lysosomal storage disorders. Immunol Lett, 2017, 188: 79-85.
[4] ZAHRAN A M, ELTAYEB A A, ELSAYH K I, et al. Activated and memory T lymphocytes in children with Gaucher disease. Arch Immunol Ther Exp (Warsz), 2017, 65(3): 263-269.
[5] MARODI L, KÁPOSZTA R, TÓTH J, et al. Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: partial correction by enzyme replacement therapy. Blood, 1995, 86(12): 4645-4649.
[6] DULGAR O, ESKAZAN A E, ERSEN E, et al. Pleural tuberculosis in a patient with untreated type 1 Gaucher disease. J Infect Chemother, 2016, 22(1): 53-57.
[7] PAN J, SUN Z Y, JI C, et al. A case of unusual association of Gaucher's disease with spinal tuberculosis. Int J Rheum Dis, 2013, 16(3): 361-363.
[8] LUKINA E A, MAMONOV V E, LUKINA K A, et al. Tuberculous sacroiliitis in a patient with Gaucher disease. Ter Arkh, 2013, 85(7): 87-89.
[9] 中华医学会儿科学分会遗传代谢内分泌学组, 中华医学会儿科学分会血液学组, 中华医学会血液学分会红细胞疾病(贫血)学组. 中国戈谢病诊治专家共识(2015). 中华儿科杂志, 2015, 53(4): 256-261.
[10] BARRANGER JA, O'ROURKE E. Lessons learned from the development of enzyme therapy for Gaucher disease. J Inherit Metab Dis, 2001, 24(Suppl 2): 89-96, discussion 87-88.
[11] Mor A, Philips MR. Compartmentalized Ras/MAPK signaling. Annu Rev Immunol, 2006, 24: 771-800.
[12] KOLCH W. Coordinating ERK/MAPK signalling through scaffolds and inhibitors. Nat Rev Mol Cell Biol, 2005, 6(11): 827-837.
[13] FINKELSTEIN R, NACHUM Z, REISSMAN P, et al, Anaerobic osteomyelitis in patients with Gaucher's disease. Clin Infect Dis, 1992, 15(5): 771-773.
[14] BEUTLER E, KUHL W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes. J Lab Clin Med, 1970, 76(5): 747-755.
[15] BERG R D, LEVITTE S, O'SULLIVAN M P, et al. Lysosomal disorders drive susceptibility to tuberculosis by compromising macrophage migration. Cell, 2016, 165(1): 139-152.
[16] AKER M, ZIMRAN A, ABRAHAMOV A, et al. Abnormal neutrophil chemotaxis in Gaucher disease. Br J Haematol, 1993, 83(2): 187-191.