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首页> 外文期刊>Modern rheumatology >Hyper-IgD syndrome with novel mutation in a Japanese girl.
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Hyper-IgD syndrome with novel mutation in a Japanese girl.

机译：一名日本女孩的新突变的高IgD综合征。

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Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is an autosomal recessive auto-inflammatory disorder characterized by recurrent febrile attacks with lymphadenopathy, abdominal distress, skin eruptions and joint involvement. We discuss the case of a 15-year-old Japanese girl who had presented with periodic fever, hepatosplenomegaly and intractable diarrhea from seven weeks of age. At first, undifferentiated autoimmune disorder was suspected, and she was treated with prednisolone and, in turn, with immunosuppressants such as cyclosporine, methotrexate, cyclophosphamide and rituximab or with plasma exchange. However, these trials failed to relieve her symptoms, and so she was transferred to our hospital when she was 15 years old. Her parents and elder brother had no history of recurrent fever, prolonged abdominal pain or diarrhea of unknown origin. The patient had extremely elevated levels of mevalonic aciduria and had homozygosity as a novel mutation in the MVK gene (G326R). Finally, HIDS was diagnosed. She was treated with simvastatin, which resulted in a moderate decrease of the urinary mevalonic acid concentration and good clinical course. This is the first case in which homozygosity for the mutation of the MVK gene has been reported in an Asian patient, and indicated a need for differentiation.
机译：高免疫球蛋白D和周期性发热综合征（HIDS）是一种常染色体隐性遗传性自身炎性疾病，其特征是发热反复发作，伴淋巴结​​病，腹痛，皮肤爆发和关节受累。我们讨论了一个15岁的日本女孩的案例，该女孩从7周龄开始就出现周期性发烧，肝脾肿大和顽固性腹泻。首先，怀疑未分化的自身免疫性疾病，并用泼尼松龙治疗，然后用环孢霉素，氨甲蝶呤，环磷酰胺和利妥昔单抗等免疫抑制剂或血浆置换治疗。但是，这些试验未能缓解她的症状，因此她在15岁时被转移到我们医院。她的父母和哥哥没有反复发烧，长时间的腹痛或来历不明的腹泻史。该患者的甲羟戊酸尿症水平极高，并且纯合性是MVK基因（G326R）的新突变。最终，HIDS被诊断出。她接受辛伐他汀治疗，导致尿中甲羟戊酸浓度适度下降，临床过程良好。这是在亚洲患者中首次报道了MVK基因突变的纯合性，并表明需要进行分化。

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