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强直性脊柱炎合并特纳综合征:两例报告及文献综述

Ankylosing spondylitis complicating Turner syndrome: Two case reports and a literature review.

作者信息

Chen Fang-Fei, Zhang Xue-Han, Jiao Yang

机构信息

Department of General Internal Medicine.

Department of Health Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.

出版信息

Medicine (Baltimore). 2020 Aug 14;99(33):e21636. doi: 10.1097/MD.0000000000021636.

Abstract

RATIONALE

Turner syndrome (TS) is an anomaly caused by loss of part of or all the X chromosomes. Ankylosing spondylitis (AS) is an HLA-B27-associated autoimmune disease with a male predominance. It is widely accepted that TS patients are at higher risk of autoimmune diseases, but AS in TS patients has only rarely been reported.

PATIENT CONCERNS

A 13-year-old TS patient presented with intermittent pain in both hip joints, and a 27-year-old TS patient presented with thoracic kyphosis and a history of AS.

DIAGNOSES

Both patients were diagnosed with AS according to their symptoms, laboratory results, and imaging.

INTERVENTIONS

The first patient was treated with tocilizumab for 8 months, whereas the second patient was treated with diclofenac initially with subsequent surgery for thoracic kyphosis.

OUTCOMES

Treatment relieved the symptoms of both patients and laboratory parameters improved.

LESSONS

Even though AS has a male predominance, clinicians should be aware that AS and TS may co-exist and that the clinical features are atypical in TS patients with AS.

摘要

原理

特纳综合征(TS)是一种由部分或全部X染色体缺失引起的异常疾病。强直性脊柱炎(AS)是一种与HLA - B27相关的自身免疫性疾病,男性患病率较高。普遍认为TS患者患自身免疫性疾病的风险更高,但TS患者并发AS的情况鲜有报道。

患者情况

一名13岁的TS患者出现双侧髋关节间歇性疼痛,一名27岁的TS患者出现胸椎后凸及AS病史。

诊断

根据患者症状、实验室检查结果及影像学表现,两名患者均被诊断为AS。

干预措施

首例患者接受托珠单抗治疗8个月,而第二例患者最初接受双氯芬酸治疗,随后因胸椎后凸接受手术治疗。

结果

治疗缓解了两名患者的症状,实验室指标得到改善。

经验教训

尽管AS男性患病率较高,但临床医生应意识到AS与TS可能并存,且TS合并AS患者的临床特征不典型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e320/7437825/ad0f409da422/medi-99-e21636-g001.jpg

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