PDF(Pubmed)
Abstract：
Hyperimmunoglobulin D syndrome (HIDS) is a rare but severe autoinflammatory disease with a poor prognosis if not diagnosed and treated early. Here, we report three cases of HIDS in children with typical clinical manifestations and a clear genetic diagnosis. Patient 1 experienced recurrent fever flares with a maculo-papular skin rash. Patient 2 presented with periodic fever, cholestasis, lymphadenopathy, aphthous stomatitis, arthralgia, and abdominal pain and underwent surgery for intestinal obstruction. Patient 3, a sibling of patient 2, presented with periodic fever and underwent a surgical procedure for intussusception. All three patients were administered interleukin (IL)-6 receptor antagonist (tocilizumab). The results showed that tocilizumab effectively reduced inflammatory flares. Early diagnosis and tocilizumab treatment are effective at improving the prognosis of HIDS patients.
摘要：
高免疫球蛋白D综合征（HIDS）是一种罕见但严重的自身炎性疾病，如果不及早诊断和治疗，预后较差。这里,我们报告了3例HIDS患儿的典型临床表现和明确的基因诊断。患者1经历了反复的发烧发作，伴有黄斑丘疹性皮疹。患者2出现周期性发热，胆汁淤积,淋巴结病，口疮性口炎，关节痛,和腹痛，并接受了肠梗阻手术。患者3是患者2的兄弟姐妹，患有周期性发烧，并接受了肠套叠的外科手术。所有3例患者均给予白介素（IL）-6受体拮抗剂（托珠单抗）。结果显示，托珠单抗可有效减少炎性耀斑。早期诊断和托珠单抗治疗可有效改善HIDS患者的预后。
