中枢神经系统受累的儿童朗格汉斯细胞组织细胞增生症研究进展

Progress in children′s central nerve system involved Langerhans cell histiocytosis

朗格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis, LCH)是一种罕见的以CD1a+/CD207+未成熟树突状细胞增殖为特征的炎性髓系肿瘤。LCH能累及多个系统, 3.4%~57%的患者可出现中枢神经系统受累的LCH(central nerve system involved LCH, CNS-LCH)。CNS-LCH的发病机制尚不明确。CNS-LCH可分为局灶性病变和神经退行性变(neurodegeneration, ND), 因受累部位不同而临床表现各异。CNS-LCH局灶性病变最常累及下丘脑-垂体-肾上腺轴, 临床表现为尿崩症及垂体前叶激素缺乏。LCH-ND是一类罕见的、严重影响患儿生活质量的长期神经系统合并症, 主要表现为神经功能学障碍和(或)特征性MRI改变。CNS-LCH局灶性病变目前的治疗标准是基于组织细胞协会的LCHIII方案, 而LCH-ND的最佳治疗方法尚未明确。该文就CNS-LCH的发病机制、临床表现、诊断及治疗等方面作一综述, 旨在为临床诊治工作提供参考。

Langerhans cell histiocytosis(LCH)is a rare inflammatory myeloid neoplastic disease which is characterized by CD1a+/CD207+dendritic cell proliferation.LCH can affect multiple systems,and the prevalence of central nervous system involved LCH(CNS-LCH)ranges from 3.4%to 57%.The pathogenesis of CNS-LCH remains unclear.CNS-LCH can be divided into the following:focal mass lesions and lesions associated with neurodegeneration(ND).The clinical manifestations of CNS-LCH vary greatly due to different involved organs.The hypothalamic pituitary-adrenal(HPA)axis is among the most commonly involved site in CNS-LCH with focal mass lesions,and HPA infiltration presents clinically as diabetes insipidus and deficiency of anterior pituitary hormone secretion.LCH-ND is a rare,long-term neurologic complication which can seriously affect patients′life quality.It is mainly characterized by neurological disorders and/or progressive imaging changes.The current standard treatment of CNS-LCH focal mass lesions is based on the Histiocyte Society LCHIII approach,while there is no established optimal therapy for patients who develop LCH-ND.The pathogenesis,clinical manifestations,diagnosis and treatment of CNS-LCH are briefly reviewed in this article in order to provide a reference for clinical diagnosis and treatment.