Gao Lili, Zhu Lijun, Huang Liang, Zhou Jianfeng
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, People's Republic of China.
Int J Hematol. 2015 Oct;102(4):488-92. doi: 10.1007/s12185-015-1807-z. Epub 2015 May 16.
A 32-year-old man of non-consanguineous Chinese parentage, with high-grade fever, rash, joint pain, nausea, and vomiting, was diagnosed as adult-onset still's disease at his initial admission. Although prednisone had been taken, the patient presented with recurrent high-grade fever, rash, splenomegaly, hypertriglyceridemia, cryptogenic hepatitis, apparently elevated levels of serum ferritin(>20,000 μg/L), which met the proposed HLH diagnostic criteria, 2009. Sequence analysis of genomic DNA from the patient's peripheral blood demonstrated heterozygous for UNC13D mutation: c. 1232 G>A, and AP3B1 mutation: c. 1075 A>G, which were predicted to be pathogenic. Unfortunately, at the time, molecular confirmation results for HLH were obtained, and this patient had died from progressive HLH disease with multiple organ dysfunction syndrome caused by shock. FHL should be considered in the differential diagnosis of adults who present with adult-onset still's disease-like symptoms.
一名32岁非近亲中国血统男性，出现高热、皮疹、关节疼痛、恶心和呕吐症状，初次入院时被诊断为成人斯蒂尔病。尽管已服用泼尼松，但患者仍反复出现高热、皮疹、脾肿大、高甘油三酯血症、隐源性肝炎，血清铁蛋白水平明显升高（>20,000μg/L），符合2009年提出的噬血细胞性淋巴组织细胞增生症（HLH）诊断标准。对患者外周血基因组DNA进行序列分析，发现UNC13D突变：c. 1232 G>A杂合，以及AP3B1突变：c. 1075 A>G，预计为致病性突变。不幸的是，在获得HLH分子确诊结果时，该患者已死于由休克引起的伴有多器官功能障碍综合征的进行性HLH疾病。对于出现成人斯蒂尔病样症状的成人患者，鉴别诊断时应考虑家族性噬血细胞性淋巴组织细胞增生症（FHL）。
