Fulminant Neonatal Liver Failure in Siblings: Probable Congenital Hemophagocytic Lymphohistiocytosis
Fulminant Neonatal Liver Failure in Siblings: Probable Congenital Hemophagocytic Lymphohistiocytosis
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兄弟姐妹中暴发性新生儿肝衰竭：可能是先天性噬血细胞性淋巴组织细胞增多症
DOI：
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发表时间：
2006
影响因子：
1.9
通讯作者：
K. Bove
中科院分区：
文献类型：
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作者：
J. Stapp;S. Wilkerson;D. Stewart;S. Coventry;J. Mo;K. Bove
家族性噬血细胞性淋巴组织细胞增生症（HLH）是一种常染色体隐性遗传的免疫调节疾病，其特征为发热、脾肿大、血细胞减少、高胆红素血症、低纤维蛋白原血症和高铁蛋白血症。虽然表现通常发生在前2年的生活，先天性表现是罕见的。我们报告一个兄弟姐妹与推定诊断的家族性HLH谁提出了胎儿水肿和严重的肝脏参与最终导致他们的死亡。本报告强调了HLH确诊的困难。然而，建立诊断对遗传咨询和计划生育有重要意义。在围产期肝功能衰竭的情况下应考虑HLH。该疾病的免疫学基础尚不完全清楚，但检测自然杀伤细胞功能和穿孔素缺陷可能有助于诊断。HLH可以通过化疗、免疫疗法和干细胞移植来治疗。
Familial hemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder of immune regulation characterized by fever, splenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and hyperferritinemia. Although presentation usually occurs during the first 2 years of life, congenital presentation is rare. We report siblings with a presumptive diagnosis of familial HLH who presented with hydrops fetalis and severe hepatic involvement ultimately resulting in their deaths. This report emphasizes the difficulty of confirming the diagnosis of HLH. However, establishing the diagnosis has important implications for genetic counseling and family planning. HLH should be considered in the setting of perinatal liver failure. The immunologic basis of the disease is incompletely understood but testing for natural killer cell function, and perforin defects may be helpful in establishing a diagnosis. HLH can be treated with chemotherapy, immunotherapy, and stem cell transplantation.