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成年患者中被诊断为高免疫球蛋白D综合征的周期性发热

Cyclic Fevers in Adult Diagnosed As Hyperimmunoglobulin D Syndrome.

作者信息

Reji Merin, Thapa Rupak

机构信息

Internal Medicine, Atrium Health Wake Forest Baptist, Winston-Salem, USA.

Rheumatology, Atrium Health Wake Forest Baptist, Winston-Salem, USA.

出版信息

Cureus. 2022 Apr 6;14(4):e23878. doi: 10.7759/cureus.23878. eCollection 2022 Apr.

Abstract

Hyper immunoglobulin D Syndrome (HIDS) is a rare autosomal recessive disease often presents during infancy. The disease is caused by an abnormal gene that codes for mevalonate kinase (MVK). This results in recurrent fever episodes and gastrointestinal discomfort (including diarrhea, joint pain, and oral sores). High fever is the most common symptom, occurring every few weeks to months. Patients may also have other findings, including lymphadenopathy and arthralgia. In this report, we discuss a rare diagnosis of HIDS is an adult and discuss our case in the context of existing literature. Given the nonspecific symptoms and the fact that it is often diagnosed in childhood, HIDS can be a challenging but essential diagnosis in adults with persistent, cyclical fevers.

摘要

高免疫球蛋白D综合征(HIDS)是一种罕见的常染色体隐性疾病,常在婴儿期发病。该疾病由编码甲羟戊酸激酶(MVK)的异常基因引起。这会导致反复发热发作和胃肠道不适(包括腹泻、关节疼痛和口腔溃疡)。高热是最常见的症状,每隔几周至数月发作一次。患者还可能有其他表现,包括淋巴结病和关节痛。在本报告中,我们讨论了一例成人HIDS的罕见诊断,并结合现有文献对我们的病例进行了讨论。鉴于其症状不具特异性且常在儿童期被诊断,对于患有持续性周期性发热的成人而言,HIDS的诊断颇具挑战性但至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e1cb/9074909/63b381e40182/cureus-0014-00000023878-i01.jpg

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