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- W4385477310 abstract "男性患儿，11岁出现皮疹，12岁出现肢端疼痛，14岁发现晨起眼睑水肿、泡沫尿，15岁时肢端疼痛难忍，尿蛋白4+就诊。辅助检查示，血压137/97 mmHg（1 mmHg=0.133 kPa），尿蛋白6.94 g/24 h，血肌酐124.7 μmol/L，尿素氮7.38 mmo1/L，尿酸582 μmol/L。超声心动图检查示左心室心肌普遍性稍增厚。肾穿刺活检组织病理见大量髓样小体。α-半乳糖苷酶A活性0.31。全外显子基因检测示GLA有一个半合子突变c.974G>A（p.G325D）。诊断法布雷病，慢性肾脏病3期。2020年8月20日起启动酶替代疗法，予阿加糖酶β 40 mg（约0.9 mg/kg）每2周输注1次，2021年1月1日起阿加糖酶β 40 mg每3周输注1次。2021年7月28日调整阿加糖酶β 45 mg（约1 mg/kg）每周输注2次。经酶替代疗法治疗1年余，血肌酐进行性升高至702 μmol/L，16岁9个月时迅速进展至终末期肾病尿毒症期，予腹膜透析治疗，17岁行肾移植术，目前继续规律酶替代疗法。通过对该病病因、临床特征、诊疗等进行归纳总结，为早期诊断、治疗及后续研究提供参考依据。." @default.
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- W4385477310 date "2023-08-01" @default.
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- W4385477310 title "[A case of adolescent Fabry disease with end-stage renal disease]." @default.
- W4385477310 doi "https://doi.org/10.3760/cma.j.cn112138-20230120-00031" @default.
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