[Etiology analysis of 38 patients with hemophagocytic syndrome].
The study was aimed to investigate the etiology and the clinical characteristics of patients with hemophagocytic syndrome. The clinical data of 38 patients with hemophagocytic syndrome were retrospectively analyzed, and prf1 and stx11 were detected for the mutational analysis. The results showed that 38 cases were diagnosed as hemophagocytic syndrome, including 1 case of familial hemophagocytic lymphohistiocytosis (FHL), 14 cases associated with infectious disease (36.84%), 10 cases with malignancies (26.32%), 7 cases with rheumatic disease (18.42%), other 6 cases of unknown etiology (15.79%). 9 out of 38 cases died with mortality of 23.68%, including 4 cases associated with infectious disease, 2 cases with malignancies, 1 case with rheumatic disease, and 2 cases of unknown etiology. One case was found to have prf1 mutation, and was diagnosed as FHL at last. It is concluded that the causes of HPS are diverse, different etiology results in different outcome. It is important to find etiology when HPS is diagnosed, and prf1 and stx11 genetic analysis plays a important role in the diagnosis of FHL.
Department of Hematology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
Jing-Shi
JS
Wang
Zhao
Z
Wang
Lin
L
Wu
Xi
X
Chen
Cui-Cui
CC
Feng
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000209:etiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics; D050765:Qa-SNARE Proteins / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D050765:Qa-SNARE Proteins; C541732:STX11 protein, human; D054353:Perforin