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婴儿期Sweet 综合征、炎症性肠病和甲羟戊酸激酶缺乏症 1 例

A case of mevalonate kinase deficiency, neonatal Sweet syndrome, and inflammatory bowel disease.

机构信息

Larner College of Medicine at The University of Vermont, Burlington, Vermont, USA.

Division of Dermatology, The University of Vermont Medical Center, Burlington, Vermont, USA.

出版信息

Pediatr Dermatol. 2024 Mar-Apr;41(2):298-301. doi: 10.1111/pde.15432. Epub 2023 Oct 8.

Abstract

Mevalonate kinase deficiency is a group of rare metabolic autoinflammatory disorders that present with recurrent fevers, abdominal pain, arthralgias, adenopathy, and a variety of cutaneous manifestations. The skin findings may mimic cellulitis, erythema elevatum diutinum, IgA vasculitis, and Sweet syndrome, and there is often a morbilliform or urticarial rash and aphthous stomatitis. Mevalonate kinase deficiency is one of the identified monogenic variants that can cause very early onset inflammatory bowel disease (IBD). We present a rare case of a patient with mevalonate kinase deficiency, neonatal Sweet syndrome, and infantile-onset IBD, who has been successfully treated with canakinumab therapy.

摘要

甲羟戊酸激酶缺乏症是一组罕见的代谢性自身炎症性疾病,表现为反复发作的发热、腹痛、关节痛、淋巴结病和多种皮肤表现。皮肤表现可能类似于蜂窝织炎、持久性隆起性红斑、IgA 血管炎和Sweet 综合征,常有麻疹样或荨麻疹样皮疹和口疮性口炎。甲羟戊酸激酶缺乏症是一种已确定的单基因变异,可以导致非常早发性炎症性肠病(IBD)。我们报告了一例罕见的甲羟戊酸激酶缺乏症、新生儿 Sweet 综合征和婴儿期 IBD 患者,该患者接受卡那单抗治疗后成功缓解。

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