Fabry disease in familial Mediterranean fever according to the severity of the disease

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-11-01 DOI:10.1016/j.reuma.2024.09.002

Sadettin Uslu , Gökhan Kabadayi , Pelin Teke Kısa , Tuba Yüce Inel , Zümrüt Arslan , Nur Arslan , Servet Akar , Fatos Onen , Ismail Sari

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引用次数: 0

Abstract

Objectives

Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases including familial Mediterranean fever (FMF). The aim of this study was to determine the frequency of FD in patients with mild and severe FMF and to prevent misdiagnosis by increasing clinicians’ awareness.

Methods

Based on Tel-Hashomer criteria, the study included a total of 91 FMF patients. Patients were divided into two groups according to the number of recurrent clinical episodes or failure to respond to maximum therapy: those with mild and severe forms of the disease. GLA gene mutations and α-GLA enzyme activity were assessed. Records of MEFV mutations, therapies and demographic characteristics were kept.

Results

FD testing was performed on a cohort of 91 FMF patients, 54.9% had mild FMF, 45.1% had severe FMF, and only one patient in the mild FMF subgroup tested positive for FD. The patient was a 39-year-old woman with a history of recurrent abdominal pain, distal limb pain and fever. She had low GLA enzyme activity and a heterozygous GLA gene mutation.

Conclusions

Our findings suggest that FD should be considered in the differential diagnosis of FMF, especially in individuals with unusual symptoms.

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法布里病在家族性地中海热中的严重程度

目的α-半乳糖苷酶 A（GLA）基因突变导致法布里病（FD），这是一种罕见的代谢性疾病。法布里病患者的临床表现多种多样，可能与包括家族性地中海热（FMF）在内的全身性疾病重叠。本研究旨在确定 FD 在轻度和重度 FMF 患者中的发病率，并通过提高临床医生的认识来防止误诊。方法根据 Tel-Hashomer 标准，本研究共纳入 91 名 FMF 患者。根据临床反复发作的次数或对最大治疗无效的情况，将患者分为两组：轻度和重度FMF患者。对 GLA 基因突变和 α-GLA 酶活性进行了评估。对91名FMF患者进行了FD检测，其中54.9%为轻度FMF，45.1%为重度FMF，轻度FMF亚组中仅有一名患者的FD检测呈阳性。这名患者是一名 39 岁的女性，有反复腹痛、肢体远端疼痛和发热的病史。结论：我们的研究结果表明，在鉴别诊断 FMF 时应考虑 FD，尤其是症状异常的患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.