Alagille综合征1例报告
DOI: 10.3969/j.issn.1001-5256.2021.09.036
A case of Alagille syndrome
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关键词:
- Alagille综合征 /
- 肝疾病 /
- 胆汁淤积
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Key words:
- Alagille Syndrome /
- Liver Diseases /
- Cholestasis
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表 1 临床检验结果变化
指标 入院当天 入院后2周 入院后3周 治疗后3个月 参考值 ALT (U/L) 295 303 469 30 9~50 AST (U/L) 133 176 287 87 15~40 TBil(μmol/L) 30.5 30.4 43.2 21.6 5~21 DBil(μmol/L) 12.2 19.5 17.3 10 <7 TBA(μmol/L) 9.5 135.7 31.1 40.6 <10 ALP(U/L) 558 674 1080 474 45~125 GGT(U/L) 1514 1360 1751 784 10~60 TP(g/L) 64 68.5 78.3 70.2 65~85 Alb(g/L) 44 40.5 47.2 43.5 40~55 Glb(g/L) 20 28.0 31.1 26.7 20~40 Cr(μmol/L) 66 68 67 62 57~97 eGFR(ml·min-1·1.73 m-2) 127 126 126.1 130.2 >90 UA(μmol/L) 344 225 321 372 220~547 CHOL(mmol/L) 9.25 ND 11.59 8.66 <5.18 TG(mmol/L) 1.23 ND 1.08 0.82 <1.7 WBC(×109/L) 3.63 3.01 5.05 ND 3.5~9.5 RBC(×1012/L) 4.63 4.58 5.1 ND 4.3~5.8 Hb(g/L) 134 134 152 ND 130~175 PLT(×109/L) 88 81 111 ND 125~350 HDL-C(mmol/L) 2.36 ND 3.57 3.41 1.0~1.6 LDL-C(mmol/L) 5.36 ND 5.98 3.95 <2.6 APOA1(g/L) 1.65 ND 2 2.24 0.79~1.69 APOB(g/L) 1.50 ND 1.43 0.84 0.46~1.74 注:ND,未检查;TBA,总胆汁酸;TP,总蛋白;Alb,白蛋白;Glb,球蛋白;Cr,肌酐;eGFR,肾小球滤过率;UA,尿酸;CHOL,胆固醇;TG,甘油三酯;HDL-C,高密度脂蛋白;LDL-C,低密度脂蛋白;APOA1,载脂蛋白A1;APOB,载脂蛋白B。 表 2 基因检测结果
突变基因 突变位置 基因突变信息 突变类型 遗传方式 致病性证据分级 所致疾病 JAG1 Chr20∶10628663 NM_000214∶exon13;c.1666 T>C;p.Y555X Het 常染色体显性遗传 PVS1+PS1+PM2 ALGS -
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