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突尼斯的家族性狼疮:14 个家族系列。

Familial lupus in Tunisia: a series of 14 families.

机构信息

Department of Internal Medicine, Hedi Chaker University Hospital, Sfax, Tunisia.

出版信息

Lupus. 2020 Jan;29(1):92-95. doi: 10.1177/0961203319889663. Epub 2019 Dec 1.

Abstract

The relatively high prevalence of systemic lupus erythematosus (SLE) in familial cases supports genetic susceptibility to this disease. Although many advances have been made in the identification of new genes implicated in lupus pathogenesis, to date, there has been no large study of familial SLE. We report what we believe to be the first study of familial SLE in the North African population. The objectives of this study were to determine the main clinical and laboratory features of familial lupus and to compare them to sporadic lupus in a population of Tunisian patients. Fourteen families in which the diagnosis of lupus could be verified in at least two relatives were included in the study. All patients fulfilled four or more criteria defined by the American College of Rheumatology. Twenty-seven patients (23 females and 4 males) with familial SLE among a cohort of 253 SLE patients were found, resulting in a frequency of 10.67%. No significant differences were found between familial SLE cases and their controls in terms of sex ratio, mean age at onset and clinical and serological manifestations, which is consistent with the results of other series reported in the literature. Our results support the importance of carrying out more genetic studies within families of SLE in order to have a better understanding of the genetic and molecular mechanisms of the disease.

摘要

红斑狼疮(SLE)在家族病例中相对较高的发病率支持了这种疾病对遗传易感性。尽管在鉴定新的与狼疮发病机制相关的基因方面已经取得了许多进展,但迄今为止,对家族性 SLE 还没有进行过大型研究。我们报告了我们认为是在北非人群中对家族性 SLE 的首次研究。本研究的目的是确定家族性狼疮的主要临床和实验室特征,并将其与突尼斯患者人群中的散发性狼疮进行比较。在至少两名亲属中可以证实狼疮诊断的 14 个家族被纳入了研究。所有患者均符合美国风湿病学会定义的四项或更多标准。在 253 例 SLE 患者的队列中发现了 27 例(23 名女性和 4 名男性)家族性 SLE,其发生率为 10.67%。家族性 SLE 病例与其对照在性别比、发病年龄和临床及血清学表现方面无显著差异,这与文献中报道的其他系列结果一致。我们的结果支持在 SLE 家族内进行更多遗传研究,以便更好地理解疾病的遗传和分子机制。

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