Journal of Clinical Pediatrics ›› 2022, Vol. 40 ›› Issue (2): 123-128.doi: 10.12372/jcp.2022.21e1321
• Hematology and Oncology Disease • Previous Articles Next Articles
MAO Shuting, WANG Xin, LIU Yufeng()
Received:
2021-09-13
Published:
2022-02-15
Online:
2022-02-11
Contact:
LIU Yufeng
E-mail:lyf6012@163.com
MAO Shuting, WANG Xin, LIU Yufeng. Clinical features and prognosis of 175 children with hemophagocytic lymphohistiocytosis[J].Journal of Clinical Pediatrics, 2022, 40(2): 123-128.
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临床特征 | 存活组 (n=110) | 死亡组 (n=65) | 统计量 | P |
---|---|---|---|---|
性别(男/女,n) | 56/54 | 35/30 | χ2=0.141 | 0.707 |
年龄[M(P25~P75)]/岁 | 2.0(1.0~7.3) | 2.0(1.0~12.0) | Z=1.83 | 0.068 |
发热[n(%)] | 110(100.0) | 64(98.5) | - | 0.8331) |
皮疹[n(%)] | 19(17.3) | 11(16.9) | χ2=0.00 | 0.953 |
肝大[n(%)] | 80(72.7) | 49(75.4) | χ2=0.15 | 0.700 |
脾大[n(%)] | 75(68.2) | 51(78.5) | χ2=2.14 | 0.143 |
淋巴结肿大[n(%)] | 58(52.7) | 29(44.6) | χ2=1.08 | 0.300 |
WBC[M(P25~P75)]×109·L-1 | 2.8(1.6~6.2) | 2.1(1.4~3.7) | Z=2.25 | 0.025 |
HB[M(P25~P75)]/g·L-1 | 88.2(78.0~103.9) | 83.0(68.0~95.8) | Z=2.02 | 0.044 |
PLT [M(P25~P75)]×109·L-1 | 62.0(27.5~110.5) | 42.0(20.0~68.0) | Z=1.53 | 0.125 |
APTT[M(P25~P75)]/s | 37.2(33.3~43.2) | 40.3(34.5~49.8) | Z=2.33 | 0.020 |
PT[M(P25~P75)]/s | 11.7(10.8~13.4) | 13.1(11.6~16.9) | Z=4.09 | <0.001 |
FIB[M(P25~P75)]/g·L-1 | 1.5(1.2~1.9) | 0.9(0.7~1.4) | Z=4.33 | <0.001 |
铁蛋白[M(P25~P75)]/μg·L-1 | 1 802.3(1 157.5~5 265.9) | 1 608.8(824.9~2 606.8) | Z=1.39 | 0.165 |
ALT[M(P25~P75)]/U·L-1 | 83.0(39.0~210.3) | 59.0(31.5~188.3) | Z=1.05 | 0.292 |
AST[M(P25~P75)]/U·L-1 | 161.0(72.8~288.8) | 119.5(56.5~381.0) | Z=0.13 | 0.899 |
ALB[M(P25~P75)]/g·L-1 | 32.6(27.5~35.3) | 29.0(26.7~34.2) | Z=1.24 | 0.214 |
LDH[M(P25~P75)]/U·L-1 | 978.0(557.5~1554.8) | 945.0(533.0~2338.0) | Z=1.06 | 0.288 |
TG[M(P25~P75)]/mmol·L-1 | 2.9(1.9~4.0) | 2.7(2.0~4.9) | Z=1.28 | 0.200 |
CD4+/CD8+[M(P25~P75)] | 0.9(0.5~1.6) | 1.2(0.6~1.9) | Z=1.38 | 0.168 |
中枢神经系统受累[n(%)] | 7(6.4) | 13(20.0) | χ2=7.51 | 0.006 |
"
例号 | 性别 | 年龄/岁 | 突变基因 | 突变碱基位点 | 治疗和疾病转归 | OS/月 |
---|---|---|---|---|---|---|
1 | 女 | 1 | STXBP2-Exon11 STXBP2-Exon14 | c.953C>T (p.Thr318Met) c.1214G>A(p.Arg405Gln) | 确诊后给予HLH-2004方案化疗达CR,8个月后非亲缘造血干细胞移植,移植后发生肝静脉窦闭塞综合征 | 43 |
2 | 男 | 8 | PRF1-Exon2 PRF1-Exon2 | c.503G>A(p.Ser168Asn) c.65delC(p.Pro22ArgfsX29) | 患儿霍奇金淋巴瘤(HL),混合细胞型。家族性HLH诊断明确后给予HLH-1994方案化疗达PR,后采用HL方案化疗,2个月后因发热伴抽搐,考虑疾病复发,采用 HLH-94 方案再次诱导,后因脓毒性休克、多脏器衰竭死亡 | 3 |
3 | 男 | 7 | UNC13D-Exon31 UNC13D-Exon13 | c.G2986A:p.G996R c.1055+1G>A | 确诊后给予HLH-2004方案化疗达CR,6个月后骨髓细胞学检查提示淋巴瘤样细胞占5%,7个月后行非亲缘造血干细胞移植 | 68 |
4 | 男 | 13 | PRF1-Exon2 | c.503G>A(p.Ser168Asn) | 确诊后给予“糖皮质激素、人免疫球蛋白”等治疗,2个月后病情反复,予以口服“环孢素、泼尼松”治疗,3个月后给予HLH-2004方案治疗, 7个月后死于疾病进展 | 7 |
5 | 女 | 1 | RAB27A-Exon3 RAB27A-Exon5 | c.121delA(p.Thr41GlnfsTer44) c.272delA(p.Asp91ValfsTer11) | 确诊后给予HLH-2004方案化疗未达部分缓解(PR),9个月后死于疾病进展 | 9 |
6 | 男 | 3 | LYST-Exon46 LYST-Exon38 | c.10526G>A(p.Arg3509Gln) c.9162+11G>A | 确诊后给予HLH-2004方案化疗达CR,5周后复发,继续HLH-2004方案化疗,2个月后出现CNS-HLH,5个月后再次复发,家属拒绝行造血干细胞移植,继续按HLH-2004方案化疗达CR | 60 |
7 | 女 | 1 | UNC13D-Exon10 | c.766C>T(p.Arg256Ter) | 确诊后给予HLH-2004方案化疗达CR,17个月后患真菌性肺炎,死于感染 | 17 |
8 | 女 | 1 | UNC13D-Exon 10 | c.766C>T(p.R256*) | 确诊后给予HLH-2004方案治疗,2个月后因直肠阴道瘘感染死亡 | 2 |
9 | 女 | 4 | UNC13D- Exon27 | c.2588G>A(p.Gly863Asp) | 确诊后给予HLH-2004方案化疗达CR | 24 |
"
因素 | 分组 | 中位生存时间 (M±SE) | χ2值 | P |
---|---|---|---|---|
性别 | 男 | 42.4±3.4 | 0.02 | 0.891 |
女 | 41.9±3.4 | |||
年龄 | <3岁 | 41.1±3.0 | 0.26 | 0.609 |
≥3岁 | 41.5±3.7 | |||
EBV感染 | 有 | 45.1±3.6 | 0.68 | 0.410 |
无 | 41.3±3.3 | |||
肿瘤相关 HLH | 有 | 30.6±7.0 | 0.70 | 0.404 |
无 | 43.6±2.6 | |||
淋巴结肿大 | 有 | 43.6±3.2 | 0.98 | 0.322 |
无 | 40.4±3.5 | |||
皮疹 | 有 | 40.6±5.4 | 0.01 | 0.908 |
无 | 42.9±2.7 | |||
肝大 | 有 | 40.7±2.7 | 0.22 | 0.637 |
无 | 44.6±4.7 | |||
脾大 | 有 | 39.4±2.8 | 1.48 | 0.223 |
无 | 48.7±4.4 | |||
肺炎 | 有 | 45.9±3.3 | 1.50 | 0.221 |
无 | 38.8±3.4 | |||
CNS受累 | 有 | 16.9±4.6 | 8.77 | 0.003 |
无 | 45.5±2.5 | |||
ANC | <1.0×109/L | 41.1±3.2 | 1.09 | 0.297 |
≥1.0×109/L | 45.6±3.8 | |||
HB水平 | <90 g/L | 38.3±3.1 | 2.29 | 0.130 |
≥90 g/L | 47.0±3.7 | |||
PLT计数 | <50×109/ L | 37.4±3.5 | 5.73 | 0.017 |
≥50×109/ L | 49.2±2.4 | |||
ALT水平 | >200 U/ L | 45.2±4.8 | 1.12 | 0.731 |
≤200 U/ L | 42.5±2.8 | |||
LDH水平 | ≥2 000 U/L | 35.4±5.2 | 3.67 | 0.055 |
<2 000 U/L | 45.3±2.7 | |||
ALB水平 | <30 g/L | 36.6±3.6 | 3.48 | 0.062 |
≥30 g/L | 46.7±3.2 | |||
铁蛋白水平 | ≥500 μg/L | 44.5±2.6 | 2.02 | 0.155 |
<500 μg/L | 23.5±4.2 | |||
FIB水平 | ≤1.5 g/L | 34.1±3.2 | 20.15 | <0.001 |
>1.5 g/L | 56.7±3.1 | |||
TG水平 | ≥3.0 mmol/L | 41.1±3.3 | 0.18 | 0.670 |
<3.0 mmol/L | 42.0±3.3 |
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