Journal of Clinical Pediatrics ›› 2024, Vol. 42 ›› Issue (3): 243-248.doi: 10.12372/jcp.2024.23e0266
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WANG Yingjie1, CHEN Zhiwei2, MAI Yumiao1, SUN Pan1, JING Zhaohe1, DONG Pengpeng1, LIU Jian1()
Received:
2023-04-04
Published:
2024-03-15
Online:
2024-03-06
WANG Yingjie, CHEN Zhiwei, MAI Yumiao, SUN Pan, JING Zhaohe, DONG Pengpeng, LIU Jian. Allogeneic hematopoietic stem cell transplantation for treatment of dyskeratosis congenita: a report of 3 cases and literature review[J].Journal of Clinical Pediatrics, 2024, 42(3): 243-248.
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项 目 | 例1 | 例2 | 例3 |
---|---|---|---|
入院日期 | 2017年11月 | 2017年10月 | 2019年3月 |
确诊时年龄/岁 | 3.2 | 4.8 | 8.7 |
性别 | 男 | 女 | 男 |
首发症状 | 面色苍白 | 出血点 | 间断鼻衄 |
皮肤黏膜异常 | 指甲萎缩、结膜炎 | 指甲萎缩,皮肤网状灰棕色色素沉着、龋齿,双眼周边视网膜血管异常、双下泪小点闭锁、双眼结膜充血 | 无 |
血常规 | WBC 1.14×109/L,Hb 31.6g/L,PLT 2×109/L,ANC 0.24×109/L | WBC 2.94×109/L,Hb 83g/L,PLT 1×109/L,ANC 0.94×109/L | WBC 2.06×109/L,Hb 61g/L,PLT 21×109/L,ANC 0.82×109/L |
骨髓细胞学 | 骨髓增生重度减低,粒系占5%;红系占0%,比值缺如,成熟红细胞大小不等,色素充盈欠佳;淋巴细胞比值增高;全片未见巨核细胞,可见成堆及散在血小板;全片易见网状细胞及网状细胞团 | 骨髓增生减低,粒系比例减低;红系比例大致正常,成熟红细胞大小不一;全片共见巨核细胞6个,血小板少见。骨髓小粒细胞面积10-20%,以非造血细胞为主,可见浆细胞。 | 骨髓增生减低,脂肪组织广泛增生,粒系比例减低;红系比例大致正常,成熟红细胞大小不一;全片未见巨核细胞,可见散在血小板。 |
基因变异 | TINF2: c.845G>A:p.R282H | TINF2: c.845G>A:p.R282H | RTEL1: c.1489G>A:p.A497T |
移植前用药(时间) | CsA、司坦唑醇(18个月) | 司坦唑醇(4个月) | CsA(33个月) |
移植前1月输血史RBC/PLT(U/治疗量) | 3/8 | 1/7 | 7/4 |
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