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一名携带M694V突变的16岁男孩的附着点炎。

Enthesitis in a 16-Year-Old Boy with M694V Mutation.

作者信息

Nienhuis Syert Luidolf, Westerbeek Robin Eric

机构信息

Department of Radiology, Deventer Ziekenhuis, Deventer, Netherlands.

出版信息

Case Rep Med. 2016;2016:5869250. doi: 10.1155/2016/5869250. Epub 2016 Dec 4.

DOI:10.1155/2016/5869250
PMID:28044082
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5164889/
Abstract

. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. . A 16-year-old boy of Turkish origin with a history of FMF presented with localized tenderness of the heel and severe disability. MRI showed an enthesitis of the plantar fascia. Standard treatment of FMF and enthesitis was not successful. After referral to a university hospital and expert opinion of a professor in rheumatology, this enthesitis should be treated as an enthesitis related arthritis. With this treatment, our patient fully recovered 8 months after the onset of the disease symptoms. . M694V mutation related enthesitis should be considered in FMF patients with enthesitis. We would suggest treatment for enthesitis related arthritis in similar cases. This is of clinical importance because the treatment is different from treatment of enthesitis or articular pain caused by FMF.

摘要

家族性地中海热(FMF)的特征是反复发热和关节疼痛发作。附着点炎是脊柱关节炎疼痛的标志。文献表明M694V突变与附着点炎有关。我们报告一例16岁患有附着点炎和FMF的男孩病例。一名有FMF病史的16岁土耳其裔男孩出现足跟局部压痛和严重功能障碍。MRI显示足底筋膜附着点炎。FMF和附着点炎的标准治疗未成功。转诊至大学医院并经风湿病学教授专家会诊后,这种附着点炎应被视为附着点炎相关关节炎。经过这种治疗,我们的患者在疾病症状出现8个月后完全康复。对于患有附着点炎的FMF患者,应考虑M694V突变相关附着点炎。我们建议对类似病例采用附着点炎相关关节炎的治疗方法。这具有临床重要性,因为其治疗方法不同于FMF引起的附着点炎或关节疼痛的治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/59a0f48e3722/CRIM2016-5869250.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/5525a3fdd487/CRIM2016-5869250.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/6678e4b9ba94/CRIM2016-5869250.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/3aee76b7b61e/CRIM2016-5869250.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/59a0f48e3722/CRIM2016-5869250.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/5525a3fdd487/CRIM2016-5869250.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/6678e4b9ba94/CRIM2016-5869250.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/3aee76b7b61e/CRIM2016-5869250.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/18a4/5164889/59a0f48e3722/CRIM2016-5869250.004.jpg

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Familial Mediterranean fever: current perspectives.家族性地中海热:当前观点
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Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?在东地中海地区,MEFV突变是否为附着点炎相关关节炎患者的易感性因素?
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Diagnosis and treatment of plantar fasciitis.足底筋膜炎的诊断与治疗。
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Enthesitis.附着点炎
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[Familial Mediterranean Fever (FMF): from diagnosis to treatment].[家族性地中海热(FMF):从诊断到治疗]
Sante. 2004 Oct-Dec;14(4):261-6.