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中国大陆原发性高草酸尿症1型临床特点及诊治情况总结

王心悦, 詹浩苏, 孙丽莹. 中国大陆原发性高草酸尿症1型临床特点及诊治情况总结[J]. 器官移植, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012
引用本文: 王心悦, 詹浩苏, 孙丽莹. 中国大陆原发性高草酸尿症1型临床特点及诊治情况总结[J]. 器官移植, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012
Wang Xinyue, Zhan Haosu, Sun Liying. Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China[J]. ORGAN TRANSPLANTATION, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012
Citation: Wang Xinyue, Zhan Haosu, Sun Liying. Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China[J]. ORGAN TRANSPLANTATION, 2022, 13(2): 232-239. doi: 10.3969/j.issn.1674-7445.2022.02.012

中国大陆原发性高草酸尿症1型临床特点及诊治情况总结

doi: 10.3969/j.issn.1674-7445.2022.02.012
基金项目: 

首都卫生发展科研专项 首发2020-1-2024

详细信息
    作者简介:
    通讯作者:

    孙丽莹,女,博士,研究方向为肝脏移植,Email:sunxlx@outlook.com

  • 中图分类号: R617, R596

Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China

More Information
  • 摘要:   目的  探讨原发性高草酸尿症1型(PH1)的临床表现、治疗及预后。  方法  检索维普网、中国知网、万方数据库、PubMed、Web of Science、Embase和Cochrane数据库中的相关文献,收集57例PH1患者的临床资料,对其临床表现、诊疗经过及预后情况进行分析。  结果  共纳入符合标准的文献35篇,共57例PH1患者,其中男39例,女18例,年龄0.2~57.0岁,发病年龄为出生后至42岁。57例PH1患者的临床症状表现特异性较低,肾结石41例,肾钙化和(或)肾钙质沉积21例,泌尿系统外草酸沉积12例,腰背腹痛12例,输尿管结石8例,此外尿量减少、代谢性酸中毒、水电解质紊乱、贫血、肉眼血尿等症状均有报道,有33例在诊断时已进入终末期肾病(ESRD)阶段。26例患者接受移植治疗,肾移植17例(2例因结石复发、恢复透析再次接受肝肾联合移植,1例恢复透析并再次接受肝移植),肝肾联合移植7例,肝移植2例,肝肾序贯移植3例。31例患者未接受移植治疗。接受移植治疗的患者与未接受移植治疗的患者存活率差异有统计学意义(85%比58%,P < 0.05)。  结论  PH1的临床表现多样且缺乏特异性,发现时多已进入ESRD阶段,接受移植治疗较未接受移植治疗的患者预后更佳,应优先考虑预先肝移植或肝肾联合移植。

     

  • 表  1  纳入患者的基本信息

    Table  1.   Basic information of the included patients

    例序 年龄(岁) 性别 发病年龄(岁) 确诊时已达ESRD 初诊是否确诊 治疗方式 结局 例序 年龄(岁) 性别 发病年龄(岁) 确诊时已达ESRD 初诊是否确诊 治疗方式 结局
    1[2] 1.2 1.0 - 放弃治疗 死亡 29[22] 0.2 - - 对症 死亡
    2[2] 0.3 0.3 - 放弃治疗 死亡 30[22] 0.3 - - 对症 死亡
    3[2] 0.3 0.3 对症 死亡 31[22] 0.6 - - 对症 存活
    4[2] 9.7 4.9 对症 存活 32[22] 2.0 - - 对症 存活
    5[2] 14.0 10.2 - 随访中 存活 33[22] 9.0 - - 对症 存活
    6[2] 0.7 0.4 - 放弃治疗 死亡 34[23] 6.0 6.0 - 对症 存活
    7[2] 0.3 0.1 - 随访中 存活 35[24] 19.0 4.0 - 肝移植 存活
    8[6] 33.0 4.0 肾移植、肝肾联合移植 存活 36[25] 21.0 8.0 - - 肾移植 存活
    37[25] 36.0 19.0 - - 肾移植 存活
    9[7] 0.5 0.5 对症 死亡 38[26] 21.0 21.0 肝肾联合移植 存活
    10[8] 25.0 1.0 对症 存活 39[27] 10.0 3.0 对症 存活
    11[9] 8.0 5.0 对症 死亡 40[27] 7.0 5.0 对症 存活
    12[10] 25.0 19.0 肾移植、肝肾联合移植 存活 41[28] 30.0 28.0 对症 存活
    42[28] 35.0 5.0 对症 存活
    13[11] 12.0 9.0 肝肾联合移植 死亡 43[28] 1.4 0.7 对症 存活
    14[12] 33.0 21.0 肾移植 存活 44[28] 8.0 6.0 对症 存活
    15[13] 34.0 13.0 肾移植 存活 45[29] 0.3 0.3 对症 死亡
    16[14] 19.0 3.0 对症 死亡 46[29] 0.3 0.3 对症 死亡
    17[14] 47.0 42.0 肾移植 死亡 47[30] 26.0 18.0 肾移植 存活
    18[15] 32.0 23.0 肾移植 死亡 48[31] 11.0 5.0 肝肾联合移植 存活
    19[16] 32.0 22.0 肾移植 存活 49[32] 57.0 36.0 肾移植 存活
    20[17] 10.0 4.0 肾移植 存活 50[33] 6.0 6.0 对症 存活
    21[18] 38.0 37.0 肾移植 存活 51[34] 32.0 24.0 肝肾联合移植 存活
    22[19] 17.0 16.0 肝肾序贯移植 存活 52[35] 8.0 1.0 肝肾序贯移植 存活
    23[19] 15.0 出生后 肝肾序贯移植 存活 53[36] 32.0 31.0 肾移植、肝移植 存活
    24[20] 20.0 2.0 对症 存活
    25[20] 3.0 出生后 - 未治疗 死亡 54[37] 32.0 25.0 肝肾联合移植 存活
    26[21] 52.0 30.0 对症 死亡 55[38] 0.3 0.2 肾移植 存活
    27[21] 38.0 20.0 肾移植 死亡 56[38] 1.8 1.4 对症 存活
    28[21] 37.0 17.0 对症 存活 57[39] 52.0 42.0 肾移植 存活
    注:①-为无数据。
    下载: 导出CSV
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  • 收稿日期:  2021-12-28
  • 网络出版日期:  2022-03-18
  • 刊出日期:  2022-03-15

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