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Familial Mediterranean fever patients homozygous for E148Q variant may have milder disease.E148Q变异纯合子的家族性地中海热患者可能患有较轻的疾病。
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10
Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever.与家族性地中海热相关的AA型淀粉样变性中MEFV基因的突变谱
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1 型糖尿病伴家族性地中海热男孩病例报告。

A case report of a boy suffering from type 1 diabetes mellitus and familial Mediterranean fever.

机构信息

Department of Woman, Child and General and Specialized Surgery, University of the Study of Campania "Luigi Vanvitelli", Naples, Italy.

出版信息

Ital J Pediatr. 2021 Jun 2;47(1):127. doi: 10.1186/s13052-021-01077-6.

DOI:10.1186/s13052-021-01077-6
PMID:34078428
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8173901/
Abstract

BACKGROUND

Type 1 diabetes mellitus could be associated with other autoimmune diseases, such as autoimmune thyroid disease, celiac disease, but the association with Familial Mediterranean Fever is rare, we describe a case of a boy with type 1 Diabetes Mellitus associated with Familial Mediterranean Fever (FMF).

CASE PRESENTATION

A 13 year old boy already suffering from Diabetes Mellitus type 1 since the age of 4 years, came to our attention because of periodic fever associated with abdominal pain, chest pain and arthralgia. The fever appeared every 15-30 days with peaks that reached 40 °C and lasted 24-48 h. Laboratory investigation, were normal between febrile episodes, but during the attacks revealed an increase in inflammatory markers. Suspecting Familial Mediterranean Fever molecular analysis of MEFV gene, was performed. The genetic analysis showed homozygous E148Q mutation. So Familial Mediterranean Fever was diagnosed and colchicine treatment was started with good response.

CONCLUSION

Familial Mediterranean Fever could be associated with other autoimmune diseases such as Ankylosing Spondylitis, Rheumatoid Arthritis, Polyarteritis Nodosa, Behcet disease, Systemic Lupus, Henoch-Schönlein Purpura, and Hashimoto's Thyroiditis. Association of type 1 Diabetes Mellitus and Familial Mediterranean Fever has been newly reported in the medical literature, this is the third association of these two diseases described in the medical literature so far.

摘要

背景

1 型糖尿病可能与其他自身免疫性疾病相关,如自身免疫性甲状腺疾病、乳糜泻,但与家族性地中海热的关联较为罕见,我们描述了一例 1 型糖尿病合并家族性地中海热(FMF)的男孩病例。

病例介绍

一名 13 岁男孩,4 岁时已患有 1 型糖尿病,因周期性发热伴腹痛、胸痛和关节痛就诊。发热每 15-30 天出现一次,峰值达到 40°C,持续 24-48 小时。发热间期实验室检查正常,但在发作期间发现炎症标志物升高。考虑家族性地中海热,进行 MEFV 基因突变的分子分析。基因分析显示 E148Q 突变纯合子。因此诊断为家族性地中海热,并开始使用秋水仙碱治疗,取得良好反应。

结论

家族性地中海热可与其他自身免疫性疾病相关,如强直性脊柱炎、类风湿关节炎、结节性多动脉炎、贝赫切特病、系统性红斑狼疮、过敏性紫癜和桥本甲状腺炎。1 型糖尿病与家族性地中海热的关联在医学文献中已有新报道,这是迄今为止医学文献中描述的这两种疾病的第三次关联。