视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders, NMOSD)是一组主要由体液免疫参与的抗原–抗体介导的CNS炎性脱髓鞘疾病谱,常青壮年起病,以女性多见,致残率高预后差。原发性干燥综合症(primary Sjogren’s Syndrome, pSS)是累及多种外分泌腺体的慢性炎症性自身免疫病,临床上常侵犯涎腺和泪腺,表现为口、眼干燥症,可有包括神经系统在内的多器官、多系统的损害。目前关于NMOSD合并pSS的报道较少,研究证明NMOSD合并pSS患者病情更严重,预后更差,且容易误诊、漏诊。本文通过分析一例NMOSD合并pSS患者的诊治过程,并查阅文献,报道如下,以提高广大临床医生对此类疾病的认识,能够及早诊断,规范治疗,改善预后。 Neuromyelitis optica spectrum disorders (NMOSD) is a group of antigen-antibody-mediated CNS inflammatory demyelinating diseases that are mainly involved in humoral immunity. The disease begins in ever young adults and is more common in women. The disability rate is high and the prognosis is poor. Primary Sjogren’s Syndrome (pSS) is a chronic inflammatory autoimmune disease involving a variety of exocrine glands. It often invades salivary glands and lacrimal glands in clinic, manifesting as dry mouth and eyes, and may include the nervous system damage to multiple organs and multiple systems within. At present, there are few reports about NMOSD combined with pSS. Studies have shown that patients with NMOSD combined with pSS have more serious disease, worse prognosis, and are easy to be misdiagnosed and missed. This article analyzes the diagnosis and treatment process of a patient with NMOSD and pSS, and consults the literature. The report is as follows, in order to improve clinicians’ understanding of this type of disease, and enable early diagnosis, standardized treatment, and improved prognosis.
视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorders, NMOSD)是一组主要由体液免疫参与的抗原–抗体介导的CNS炎性脱髓鞘疾病谱,常青壮年起病,以女性多见,致残率高预后差。原发性干燥综合症(primary Sjogren’s Syndrome, pSS)是累及多种外分泌腺体的慢性炎症性自身免疫病,临床上常侵犯涎腺和泪腺,表现为口、眼干燥症,可有包括神经系统在内的多器官、多系统的损害。目前关于NMOSD合并pSS的报道较少,研究证明NMOSD合并pSS患者病情更严重,预后更差,且容易误诊、漏诊。本文通过分析一例NMOSD合并pSS患者的诊治过程,并查阅文献,报道如下,以提高广大临床医生对此类疾病的认识,能够及早诊断,规范治疗,改善预后。
视神经脊髓炎谱系疾病,原发性干燥综合症,诊断,治疗
Lin Zou, Yixia Cui
Yan’an University Affiliated Hospital, Yan’an Shaanxi
Received: Dec. 11th, 2021; accepted: Jan. 1st, 2022; published: Jan. 12th, 2022
Neuromyelitis optica spectrum disorders (NMOSD) is a group of antigen-antibody-mediated CNS inflammatory demyelinating diseases that are mainly involved in humoral immunity. The disease begins in ever young adults and is more common in women. The disability rate is high and the prognosis is poor. Primary Sjogren’s Syndrome (pSS) is a chronic inflammatory autoimmune disease involving a variety of exocrine glands. It often invades salivary glands and lacrimal glands in clinic, manifesting as dry mouth and eyes, and may include the nervous system damage to multiple organs and multiple systems within. At present, there are few reports about NMOSD combined with pSS. Studies have shown that patients with NMOSD combined with pSS have more serious disease, worse prognosis, and are easy to be misdiagnosed and missed. This article analyzes the diagnosis and treatment process of a patient with NMOSD and pSS, and consults the literature. The report is as follows, in order to improve clinicians’ understanding of this type of disease, and enable early diagnosis, standardized treatment, and improved prognosis.
Keywords:Optic Neuromyelitis Spectrum Disease, Primary Sjogren’s Syndrome, Diagnosis, Treatment
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患者,女,45岁,以发现抗核抗体、抗SSB、抗SSA抗体阳性,于2021年04月28日就诊于延安大学附属医院风湿免疫科。患者8月余前无明显诱因出现右眼视力下降,未予重视及诊治,后逐渐加重至右眼视力完全丧失,2010年09月22日于我院眼科住院治疗,诊断“右眼缺血性视神经病变”,查颅脑MRI未见明显异常,给予激素冲击,营养神经等对症治疗,视力恢复出院。5月前再次出现左眼视力下降,2020年12月03再次于我院眼科住院治疗,眼科检查示:眼表综合分析:OD首次破裂时间1.08 s平均破裂时间:1.08 s,分级2;OS首次破裂时间:3.06 s,平均破裂时间:3.16 s,分级2。唇腺活检:(下唇唇腺)唇腺小叶结构存在,肌上皮轻度增生,小叶内见浸润灶,灶性指数约为2。符合干燥综合症II。诊断“视神经炎”,对症治疗好转出院。
2021年2月10日患者无明显原因出现四肢麻木,无力,伴行走不稳,走路踩棉花感,尿便障碍,伴双上肢肌肉困痛乏力,于当地县医院对症治疗无明显改善,遂到西京医院行脊椎MRI示:颈2–胸1段脊髓内斑片状明显强化,考虑1) 多发性硬化;2) 脊髓炎,请结合临床。2021年03月22日就诊于我院神经内科住院治疗,入院查体:意识清楚,言语流利,右利手,无构音障碍,无吞咽困难,双眼视力正常,双侧瞳孔等大正圆,直径约3 mm,直接间接对光反射灵敏,双眼球各方向运动不受限,四肢肌张力适中,双上肢肌力5级,双下肢肌力3级,第6胸椎平面以下皮肤痛温觉减退,双侧深感觉减退,双下肢腱反射(+++),双上肢腱反射(++),双侧病理征阳性,踝阵挛、髌阵挛阳性,双手指鼻试验睁眼闭眼均不稳,跟膝胫试验不能配合,闭目难立征不能配合,直线行走不能配合。脑脊液生化、常规未见明显异常,颅脑MRI + DWI未见明显异常;肌电图及诱发电位:1) 左腓肠神经感觉纤维脱髓鞘损害。2) 双正中神经SEP异常;左耳BAEP正常;双胫神经F波波形分化差。血清AQP4抗体:阳性(+) 1:100,MOG抗体阴性,寡克隆蛋白阴性。诊断“视神经脊髓炎谱系疾病”,给予甲泼尼龙1 g静脉点滴QD,共3 d;500 mg静脉点滴QD,共3 d;240 mg静脉点滴QD,共3 d;120 mg静脉点滴QD,共3 d;泼尼松60 mg口服QD,共7 d,好转出院嘱继续口服泼尼松片50 mg,40 mg,30 mg各7 d,并加用吗替麦考酚酯0.5 g BID。
2021年04月28日因化验抗核抗体、抗SSB、抗SSA抗体阳性,就诊于延安大学附属医院风湿免疫科。追问病史口干20年余,收住院后查体:血压113/78 mmHg,神志清,精神可,双侧视力可,神经系统查体同前。入院完善相关实验室检查:抗核抗体谱:抗SS-B (La)抗体(+),抗SSA/Ro52kD抗体(+++),抗SSA/Ro60kD抗体(+++),抗核抗体(ANA) (+),抗核抗体滴度1:100阳性,免疫球蛋白I g G:753.0 mg/dL,红细胞沉降率、RF、补体C3C4、CRP、抗角蛋白抗体三项、血管炎抗体三项、心磷脂系列、甲功未见明显异常。结合唇腺活检,考虑诊断:1) 干燥综合征;2) 视神经脊髓炎谱系疾病,风湿科给予口服泼尼松片30 mg QD,吗替麦考酚酯分散片0.5 g BID,甲钴胺片0.5 mg TID,骨化三醇软胶囊0.5 ug TID,白芍总苷胶囊0.6 g TID治疗,建议患者应用免疫球蛋白治疗。
NMOSD是一种免疫相关的,以视神经炎和脊髓炎为表现的中枢神经系统脱髓鞘疾病,可分为五大类:① NMO;② NMO限定形式:a) 单发或复发性神经炎(ON/r-ON);b) 单发或复发性纵向延伸的横惯性脊髓炎(LETM/r-LETM);③ 亚洲视神经脊髓炎型MS;④ 系统性自身免疫疾病相关的ON或LETM;⑤ 伴有NMO特征性脑部病灶的视神经炎或脊髓炎 [
本例患者以视神经炎起病,短时间内单侧视力快速下降,仅给予对症治疗,并未进一步明确病因及规范治疗,以至于视力下降反复,直至出现四肢麻木,行走不稳,尿便障碍等脊髓炎表现,于神经内科明确诊断,给予规范化治疗,但并未诊断干燥综合征。这表明临床医生对此类疾病的认识不足,眼科、神经内科及风湿免疫科医生应熟悉NMOSD及合并症,掌握基本的临床表现,明确如何诊断治疗。眼科医生在诊断视神经炎时可以考虑视力下降是否是NMOSD的视神经炎表现,尤其是反复视力下降的患者,需要进一步化验自身抗体系列,排除免疫相关性疾病,虽然二者都是糖皮质激素治疗,但在激素的用药剂量及治疗时长完全不一样。当患者以脊髓炎症状在神经内科诊治时,医生应仔细询问病史,确认是NMOSD后进一步评估是否合并CTD或是CTD相关自身抗体阳性,自身免疫疾病的存在可能使NMOSD诊断更可靠 [
那么NMOSD的临床症状是什么呢?该如何诊断,如何治疗呢?NMOSD有6组核心临床症候,包括视神经炎、急性脊髓炎、延髓最后区综合征、急性脑干综合征、急性间脑综合征及大脑综合征 [
NMOSD合并pSS的治疗尚无特定指南,主要依据临床经验及专家共识而得出。传统的NMOSD急性期的治疗为大剂量静脉应用甲泼尼龙1 g/d连续3~5 d,之后逐渐减量口服序贯治疗,糖皮质激素疗效差或病情重尤其是累及呼吸肌时可考虑血浆置换、丙种球蛋白等。缓解期主要应用免疫抑制剂,预防复发,减少神经功能障碍累积,一线药物包括硫唑嘌呤、甲氨蝶呤、利妥昔单抗等,二线药物包括环磷酰胺、他克莫司、米托蒽醌等。吗替麦考酚酯起效比硫唑嘌呤快,白细胞减少及肝损害少,并且减少NMOSD的复发和神经功能障碍。部分患者痛性痉挛、感觉异常、抑郁焦虑及认知障碍症状,可适当给予对症治疗 [
综上所述,NMOSD合并pSS是高复发、高致残性、预后差的复杂、鲜为人知的疾病,临床要早期诊断、治疗及给予必要的、规范化康复训练,提高生活质量,防止复发。
邹 琳,崔轶霞. 视神经脊髓炎谱系疾病合并干燥综合征1例文献复习Review of a Case of Optic Neuromyelitis Spectrum Disease Complicated with Sjogren’s Syndrome[J]. 临床医学进展, 2022, 12(01): 91-94. https://doi.org/10.12677/ACM.2022.121016