Liu Chunxia, Li Ming, Wu Xiaomei, Yao Xiaojian, Zhao Li
Department of Hematology, The First Affiliated Hospital, Lanzhou University, Lanzhou Department of Nursing, The Rehabilitation Center Hospital, Pingliang, Gansu, China.
Medicine (Baltimore). 2018 Jul;97(30):e11577. doi: 10.1097/MD.0000000000011577.
We describe a novel case of half-brothers suffering from type 2 familial hemophagocytic lymphohistiocytosis (FHL).
A 15-year-old Chinese child was admitted to the hematology department. PRF1 gene coding revealed that he was c.282C>A/p.N94K heterozygous and had a c.1349C>T/p.T450M heterozygous mutation. One year later, his younger halfbrother suffered from the same disease. PRF1 gene coding revealed that the younger brother was c.282C>A/p.T450M heterozygous with a c.1349C>T/p.T450M heterozygous mutation. His mother and grandfather were confirmed to have c.1349C>T/p.T450M heterozygous mutations in exon 3.
Half-brothers were diagnosed for type 2 familial hemophagocytic lymphohistiocytosis INTERVENTIONS:: To our knowledge, this is a possible FHL and the children's mother may be a pathogenic gene carrier.
After being treated with the HLH-04 schedule, the symptoms of half-brothers were all improved.
Therefore, once FHL is diagnosed, HSCT needs to be done early, even if no perfect match is found.
我们描述了一例患2型家族性噬血细胞性淋巴组织细胞增生症（FHL）的同父异母兄弟的新病例。
一名15岁中国儿童入住血液科。PRF1基因编码显示，他为c.282C>A/p.N94K杂合子，并有c.1349C>T/p.T450M杂合突变。一年后，他同父异母的弟弟也患了同样的疾病。PRF1基因编码显示，弟弟为c.282C>A/p.T450M杂合子，伴有c.1349C>T/p.T450M杂合突变。他的母亲和祖父被证实外显子3中有c.1349C>T/p.T450M杂合突变。
同父异母兄弟被诊断为2型家族性噬血细胞性淋巴组织细胞增生症。
据我们所知，这可能是一例FHL，患儿的母亲可能是致病基因携带者。
在采用HLH-04方案治疗后，同父异母兄弟的症状均有改善。
因此，一旦确诊FHL，即使未找到完美配型，也需要尽早进行造血干细胞移植。
