Clinical Focus ›› 2022, Vol. 37 ›› Issue (9): 860-864.doi: 10.3969/j.issn.1004-583X.2022.09.019
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Received:2022-06-21Online:2022-09-20Published:2022-11-21
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URL: https://huicui.hebmu.edu.cn/EN/10.3969/j.issn.1004-583X.2022.09.019
| VWD 类型 | 遗传 模式 | 实验室检测 | 外显子 变异位置 | 结构域 变异位置 | 致病机制 | 热点突变 | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| VWF:Ag | VWF:RCo | FVIII:C | VWF:RCo/ VWF:Ag | RIPA | ||||||
| 1 | AD | ↓ | ↓ | N/↓ | >0.7 | ↓ | 1~52 | 全部 | VWF的合成或分泌受影响;血浆VWF的清除加快 | C2257S,L2207P,W1144G,I1415N等 |
| 2A | AD,AR | ↓↓ | ↓ | N/↓ | <0.7 | ↓ | 2~28, 51~52 | A1,A2 | VWF对ADAMTS13 水解酶敏感性增加 | S1506L,Y1605S,R1597W等 |
| D',D3, | VWF在胞内滞留 | C1149R等 | ||||||||
| D1,D2,CK | VWF多聚化受影响 | E248G等 | ||||||||
| 2B | AD | ↓↓ | ↓ | N/↓ | <0.7 | ↑ | 28 | A1 | 血小板清除率增加;高分子量VWF多聚体丢失 | R1306W,R1308C,V1316M,R1341Q等 |
| 2M | AD | ↓ | ↓ | N/↓ | <0.7 | ↓ | 28~32 | A1,A2, A3 | VWF与血小板的黏附能力减弱 | 204delC,S1387I等 |
| 2N | AR | N | N | ↓ | >0.7 | N | 17~27 | D2,D',D3 | FVIII失去保护被降解 | R760C,R763G,Y795C,C788Y等 |
| 3 | AR | ↓↓↓ | ↓↓↓ | ↓↓↓ | - | ↓↓↓ | 1~52 | 全部 | VWF在胞内滞留;基因缺失干扰VWF的正确折叠和生物合成 | R1659X,S85P,C2671Y,C2739Y等 |
| VWD 类型 | 遗传 模式 | 实验室检测 | 外显子 变异位置 | 结构域 变异位置 | 致病机制 | 热点突变 | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| VWF:Ag | VWF:RCo | FVIII:C | VWF:RCo/ VWF:Ag | RIPA | ||||||
| 1 | AD | ↓ | ↓ | N/↓ | >0.7 | ↓ | 1~52 | 全部 | VWF的合成或分泌受影响;血浆VWF的清除加快 | C2257S,L2207P,W1144G,I1415N等 |
| 2A | AD,AR | ↓↓ | ↓ | N/↓ | <0.7 | ↓ | 2~28, 51~52 | A1,A2 | VWF对ADAMTS13 水解酶敏感性增加 | S1506L,Y1605S,R1597W等 |
| D',D3, | VWF在胞内滞留 | C1149R等 | ||||||||
| D1,D2,CK | VWF多聚化受影响 | E248G等 | ||||||||
| 2B | AD | ↓↓ | ↓ | N/↓ | <0.7 | ↑ | 28 | A1 | 血小板清除率增加;高分子量VWF多聚体丢失 | R1306W,R1308C,V1316M,R1341Q等 |
| 2M | AD | ↓ | ↓ | N/↓ | <0.7 | ↓ | 28~32 | A1,A2, A3 | VWF与血小板的黏附能力减弱 | 204delC,S1387I等 |
| 2N | AR | N | N | ↓ | >0.7 | N | 17~27 | D2,D',D3 | FVIII失去保护被降解 | R760C,R763G,Y795C,C788Y等 |
| 3 | AR | ↓↓↓ | ↓↓↓ | ↓↓↓ | - | ↓↓↓ | 1~52 | 全部 | VWF在胞内滞留;基因缺失干扰VWF的正确折叠和生物合成 | R1659X,S85P,C2671Y,C2739Y等 |
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