新生儿肝炎作为高免疫球蛋白D综合征的首发表现。
Neonatal hepatitis as first manifestation of hyperimmunoglobulinemia d syndrome.
作者信息
von Linstow Marie-Louise, Rosenfeldt Vibeke
机构信息
Department of Paediatrics, Hvidovre University Hospital, Kettegaard Alle 30, 2650 Hvidovre, Denmark.
出版信息
Case Rep Pediatr. 2014;2014:936890. doi: 10.1155/2014/936890. Epub 2014 Mar 3.
Abstract
Hyper IgD syndrome (HIDS) is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. We present a case of severe HIDS in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. From the age of five months, the child had recurrent febrile episodes, stomatitis, adenitis, and persistent hepatomegaly. The diagnosis of HIDS was established when she was three years and eight months old. This case report suggests that HIDS should be included in the differential diagnosis of neonatal hepatitis and conjugated hyperbilirubinemia.
摘要
高IgD综合征（HIDS）是一种罕见的代谢性自身炎症综合征，其特征为反复发热发作，并伴有各种炎症症状。我们报告一例年轻女孩的重症HIDS病例，其症状始于新生儿期，表现为肝肿大、肝炎、血小板减少和结合胆红素血症。从五个月大起，该患儿出现反复发热发作、口腔炎、腺炎和持续性肝肿大。她在三岁零八个月时确诊为HIDS。本病例报告提示，HIDS应纳入新生儿肝炎和结合胆红素血症的鉴别诊断。
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