Edner Josefine, Rudd Eva, Zheng Chengyun, Dahlander Andreas, Eksborg Staffan, Schneider E Marion, Edner Ann, Henter Jan-Inge
Childhood Cancer Research Unit, Department of Women and Child Health, Karolinska University Hospital, Stockholm, Sweden.
Acta Paediatr. 2007 Nov;96(11):1703-6. doi: 10.1111/j.1651-2227.2007.00505.x. Epub 2007 Sep 19.
Hemophagocytic lymphohistiocytosis (HLH) is a rare condition with high mortality. We report an extremely premature girl, born in the 24th gestational week (BW 732 g), that during her second month developed a severe HLH subsequent to a Serratia marcescens septicemia, with hepatosplenomegaly, cytopenias, hyperbilirubinemia (mostly conjugated, total bilirubin 916 mumol/L), hypertriglyceridemia, hypofibrinogenemia, hyperferritinemia (21266 mug/L), and elevated sIL-2 receptor levels. Genetic analysis revealed no PRF1, STX11 or UNC13D gene mutations. Treatment was provided according to the HLH-2004 protocol with etoposide, dexamethasone, and immunoglobulin, but no cyclosporin because of immature kidneys. She recovered fully from the HLH but developed a severe retinopathy as well as green teeth secondary to the hyperbilirubinemia. We conclude that secondary, bacteria-associated HLH can develop in premature infants, and that HLH can be treated with cytotoxic therapy also in premature infants. It is important to be aware of HLH in premature infants, since it is treatable.
噬血细胞性淋巴组织细胞增生症(HLH)是一种死亡率很高的罕见病症。我们报告了一名极早产女孩,孕24周出生(出生体重732克),在其出生后第二个月,因粘质沙雷氏菌败血症继发严重HLH,伴有肝脾肿大、血细胞减少、高胆红素血症(主要为结合胆红素,总胆红素916μmol/L)、高甘油三酯血症、纤维蛋白原血症、高铁蛋白血症(21266μg/L)以及可溶性白细胞介素-2受体水平升高。基因分析未发现PRF1、STX11或UNC13D基因突变。根据HLH - 2004方案给予依托泊苷、地塞米松和免疫球蛋白进行治疗,但由于肾脏未发育成熟未使用环孢素。她的HLH完全康复,但继发严重视网膜病变以及因高胆红素血症导致的绿牙。我们得出结论,继发性细菌相关HLH可在早产儿中发生,并且细胞毒性疗法也可用于治疗早产儿的HLH。认识到早产儿中的HLH很重要,因为它是可治疗的。