Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations

被引:7
|
作者
Akyol, Sefika [1 ,2 ]
Ozcan, Alper [1 ,2 ]
Sekine, Takuya [4 ]
Chiang, Samuel C. C. [4 ]
Yilmaz, Ebru [1 ,2 ]
Karakurkcu, Musa [1 ,2 ]
Patiroglu, Turkan [1 ,2 ]
Bryceson, Yenan [4 ]
Unal, Ekrem [1 ,2 ,3 ]
机构
[1] Erciyes Univ, Dept Pediat, Div Pediat Hematol & Oncol, Fac Med, TR-38039 Kayseri, Turkey
[2] Erciyes Univ, Oncol & Pediat HSCT Unit, Fac Med, TR-38039 Kayseri, Turkey
[3] Erciyes Univ, Genome & Stem Cell Ctr GENKOK, Gevher Nesibe Genom & Stem Cell Inst, Mol Biol & Genet Dept, Kayseri, Turkey
[4] Karolinska Univ Hosp Huddinge, Ctr Hematol & Regenerat Med, Karolinska Inst, Dept Med, Stockholm, Sweden
关键词
child; HLH; novel mutation; presentation;
D O I
10.1097/MPH.0000000000001589
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Although familial hemophagocytic lymphohistiocytosis (FHL) generally manifest with a combination of unremitting fever, hepatosplenomegaly, and pancytopenia; unusual presentations should also be taken into account. Herein, we present 3 FHL cases with 2 novel mutations with different initial presentations. The first patient bearing a homozygous truncation mutation in UNC13D (c.2650C>T.p.Gln884Ter) presented with central nervous system involvement and skin rash. The patient responded to the HLH-2004 protocol, and allogenic hematopoietic stem cell transplantation was performed from her healthy sister. The second and third patients with homozygous splice site mutation (c.430-1G>A) in STXBP2 were siblings who presented at birth with fevers, elevated aspartate aminotransferase, alanine aminotransferase, and hyperferritinemia but did not fulfill FHL criteria. The last 2 infants died despite intervention. Hematologists should be vigilant about the different presentation of FHL in children.
引用
收藏
页码:E627 / E629
页数:3
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