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Erdheim-Chester病

Author
Eric Jacobsen, MD
Section Editor
Arnold S Freedman, MD
Deputy Editor
Rebecca F Connor, MD
Translators
曹欣欣, 副主任医师

引言

Erdheim-Chester病(Erdheim-Chester disease, ECD)是一种罕见的非朗格汉斯组织细胞疾病，最常见的特征是多发的长骨骨质硬化性病变，活检可见大量泡沫样组织细胞伴或不伴骨外组织的组织细胞浸润。Erdheim和Chester两人于1930年首次报道了ECD[1]，至今，医学文献中仅有几百例病例报道。

组织细胞疾病被认为起源于单个核吞噬细胞(巨噬细胞和树突状细胞)或组织细胞，这组疾病通常可分为朗格汉斯细胞组织细胞增生症(Langerhans cell histiocytosis, LCH)和非朗格汉斯细胞组织细胞增生症。LCH的命名是因为推测其起源于皮肤和黏膜中特有的树突状细胞，即朗格汉斯细胞。与之相反，非朗格汉斯细胞组织细胞增生症则被认为起源于单核细胞-巨噬细胞系。

本专题将介绍ECD的流行病学、临床表现、病理特征、诊断和治疗。LCH的诊断和治疗参见其他专题。 (参见“朗格汉斯细胞组织细胞增生症的临床表现、病理特征及诊断”和“肺朗格汉斯细胞组织细胞增生症”和“儿童及青少年骨朗格汉斯细胞组织细胞增生症(嗜酸性肉芽肿)”)

流行病学

ECD是一种罕见的组织细胞疾病，发病率不明。目前出版的文献中报道的病例不足500例[2]。ECD可在任何年龄发病，但以成年人最常见。平均诊断年龄为53岁[2]。男性略多见。虽然有人认为ECD及其他组织细胞疾病可能是对感染的一种异常反应，但至今尚未发现感染性病因。目前没有证据表明ECD是一种遗传性疾病。

发病机制

目前对ECD的发病机制还缺乏了解。人们尝试确定ECD是否为克隆性，得到了多种结果，虽然偶尔发现克隆性细胞遗传学异常，但这些发现并非特征性，也不具有诊断性[3-5]。一项针对1例患者的组织进行的研究证实，诱导产生了肿瘤坏死因子-α(tumor necrosis factor-α, TNF-α)，同时可自发性分泌白细胞介素(interleukin, IL)-6和CXC趋化因子配体8/IL-8(CXC chemokine ligand 8/IL-8, CXCL8/IL-8)，而后者可趋化单核细胞和多形核细胞[6,7]。一项更大规模的病例系列研究的数据显示，ECD中细胞浸润包含大量1型辅助性T(T cell helper 1, Th-1)淋巴细胞，并且浸润的组织细胞表达干扰素(interferon, IFN)-γ诱导的趋化因子CXCL10/IP-10和IL-1[8]。随后的研究显示，与对照者对比，未经治疗的ECD患者血清中IFN-α显著增高，而干扰素γ并未出现此种改变。

                      

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Literature review current through: 2017-06 . | This topic last updated: 2017-05-23.
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