PDF(Pubmed)
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遗传疾病，通常在婴儿期出现。该疾病是由编码甲羟戊酸激酶（MVK）的异常基因引起的。这导致反复发烧和胃肠道不适（包括腹泻，关节痛,和口腔溃疡)。高烧是最常见的症状,每隔几周到几个月发生一次。患者可能还有其他发现，包括淋巴结肿大和关节痛。在这份报告中,我们讨论一个罕见的诊断为成人HIDS，并在现有文献的背景下讨论我们的病例。考虑到非特异性症状以及通常在儿童时期被诊断的事实，HIDS可能是一个具有挑战性但必不可少的诊断，周期性发烧。
