留言板

尊敬的读者、作者、审稿人, 关于本刊的投稿、审稿、编辑和出版的任何问题, 您可以本页添加留言。我们将尽快给您答复。谢谢您的支持!

姓名
邮箱
手机号码
标题
留言内容
验证码

原发性高草酸尿症II型与器官移植

方翊灵, 苗芸. 原发性高草酸尿症II型与器官移植[J]. 器官移植, 2023, 14(6): 804-809. doi: 10.3969/j.issn.1674-7445.2023145
引用本文: 方翊灵, 苗芸. 原发性高草酸尿症II型与器官移植[J]. 器官移植, 2023, 14(6): 804-809. doi: 10.3969/j.issn.1674-7445.2023145
Fang Yiling, Miao Yun. Primary hyperoxaluria type II and organ transplantation[J]. ORGAN TRANSPLANTATION, 2023, 14(6): 804-809. doi: 10.3969/j.issn.1674-7445.2023145
Citation: Fang Yiling, Miao Yun. Primary hyperoxaluria type II and organ transplantation[J]. ORGAN TRANSPLANTATION, 2023, 14(6): 804-809. doi: 10.3969/j.issn.1674-7445.2023145

原发性高草酸尿症II型与器官移植

doi: 10.3969/j.issn.1674-7445.2023145
基金项目: 国家自然科学基金(82270784、82070770)
详细信息
    作者简介:
    通讯作者:

    苗芸(ORCID:0000-0003-3592-4695),博士,主任医师,研究方向为肾移植,Email:miaoyunecho@126.com

  • 中图分类号: R617, R692

Primary hyperoxaluria type II and organ transplantation

More Information
  • 摘要: 原发性高草酸尿症Ⅱ型(PH2)是由乙醛酸还原酶/羟基丙酮酸还原酶(GRHPR)基因突变引起的乙醛酸代谢障碍性遗传病。其特征是复发性肾草酸钙结石和肾钙盐沉着症,严重者可进展至终末期肾病。器官移植是目前治愈PH2的唯一方法,主要包括肾移植和肝肾联合移植两种策略。前者有较高的草酸盐肾病复发风险,可能造成移植肾早期失功。后者能纠正草酸代谢缺陷,但具有较高的移植物并发症发生风险。由于PH2的罕见性,目前尚未就该疾病器官移植的指征、术式选择、围手术期管理等达成共识。本文就PH2的发病机制、诊断与监测以及器官移植经验做一综述,旨在引起临床医师对PH2的重视,并为PH2诊治方案尤其是移植策略的制定提供参考。

     

  • 表  1  PH2患者器官移植策略及预后报道

    Table  1.   Organ transplantation strategies and prognosis of PH2 patients reported in literature

    研究者 n 发病年龄(岁) 基因突变 移植年龄(岁) 手术指征 移植策略 术后随访时间(月) 结局
    Garrelfs SF,
    et al [14]
    6 肾移植5例
    肝肾联合
    移植1例
    12.0~264.0 1例肝肾联合移植受者死亡,其余5例移植肾均失功
    Hosaagrahara Ramakrishna S, et al [15] 1 9 c.735-1G>A 12 CKD 5期,系统性草酸沉着症 肝肾联合
    移植
    18.0 移植肾存活
    Lam CW,
    et al [28]
    1 4 c.862_863delTG 双肾结石,CKD 5期 肾移植+双侧肾切除 移植肾存活
    Naderi G,
    et al [29]
    1 <5 9 CKD 5期 肾移植 11.0 移植肾失功、切除
    Liu S, et al [30] 1 23 c.864_865delTG 33 CKD 5期 肾移植 1.6 移植肾失功、切除
    Dhondup T,
    et al [31]
    2 6 c.139C>T 37、44 急性肾衰竭、肾移植后移植肾衰竭 肾移植、肝肾联合移植 12.8、60.0 单独肾移植后移植肾失功,肝肾联合移植后移植肾存活
    Del Bello A,
    et al [32]
    1 22 c.103delG 41 CKD 5期 肾移植 6.0 移植肾失功
    Del Bello A,
    et al [33]
    1 22 c.103delG 43 肾移植后
    移植肾衰竭
    肝肾联合
    移植
    15.0 移植肾存活
    Jia Z, et al [34] 1 c.532_533delCA 26 CKD 5期,肾移植后草酸盐肾病复发 肾移植后
    追加肝移植
    2.0 移植肾失功
    Genena KM,
    et al [35]
    1 18 c.103delG; c.781_782delinsTAC 30 CKD 5期 肝肾联合
    移植
    12.0 移植肾存活
    Yau AA,
    et al [36]
    1 c.494G>A 56 肾移植 >3.0 移植肾存活
    Monico CG,
    et al [37]
    1 22 肾移植 242.4 移植肾存活
      注:①-指文献未报道。
     
    下载: 导出CSV
  • [1] 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 XY, ZHAN HS, SUN LY. Summary of clinical characteristics, diagnosis and treatment of primary hyperoxaluria type 1 in mainland China[J]. Organ Transplant, 2022, 13(2): 232-239. DOI: 10.3969/j.issn.1674-7445.2022.02.012.
    [2] SINGH P, VIEHMAN JK, MEHTA RA, et al. Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2[J]. Nephrol Dial Transplant, 2022, 37(5): 869-875. DOI: 10.1093/ndt/gfab027.
    [3] SHEE K, STOLLER ML. Perspectives in primary hyperoxaluria - historical, current and future clinical interventions[J]. Nat Rev Urol, 2022, 19(3): 137-146. DOI: 10.1038/s41585-021-00543-4.
    [4] MANDRILE G, PELLE A, SCIANNAMEO V, et al. Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease[J]. J Nephrol, 2022, 35(3): 841-850. DOI: 10.1007/s40620-022-01258-4.
    [5] SIKORA P, ZANIEW M, GRENDA R, et al. Still diagnosed too late and under-recognized? the first comprehensive report on primary hyperoxaluria in Poland[J]. Pol Arch Intern Med, 2020, 130(12): 1053-1063. DOI: 10.20452/pamw.15698.
    [6] CRIVELLI JJ, MITCHELL T, KNIGHT J, et al. Contribution of dietary oxalate and oxalate precursors to urinary oxalate excretion[J]. Nutrients, 2020, 13(1): 62. DOI: 10.3390/nu13010062.
    [7] CAPOLONGO G, FERRARO PM, UNWIN R. Inflammation and kidney stones: cause and effect?[J]. Curr Opin Urol, 2023, 33(2): 129-135. DOI: 10.1097/MOU.0000000000001066.
    [8] DEMOULIN N, AYDIN S, GILLION V, et al. Pathophysiology and management of hyperoxaluria and oxalate nephropathy: a review[J]. Am J Kidney Dis, 2022, 79(5): 717-727. DOI: 10.1053/j.ajkd.2021.07.018.
    [9] PIJNENBURG L, CAILLARD S, BOIVIN G, et al. Type 1 primary hyperoxaluria: a case report and focus on bone impairment of systemic oxalosis[J]. Morphologie, 2018, 102(336): 48-53. DOI: 10.1016/j.morpho.2017.09.004.
    [10] BIRTEL J, DIEDEREN RM, HERRMANN P, et al. The retinal phenotype in primary hyperoxaluria type 2 and 3[J]. Pediatr Nephrol, 2023, 38(5): 1485-1490. DOI: 10.1007/s00467-022-05765-1.
    [11] LEE DH, KASPROWICZ T, MORALES A, et al. A case of infiltrative cardiomyopathy secondary to primary hyperoxaluria type 2 - utilization of multimodality imaging[J]. Cureus, 2021, 13(9): e17914. DOI: 10.7759/cureus.17914.
    [12] DEVRESSE A, COCHAT P, GODEFROID N, et al. Transplantation for primary hyperoxaluria type 1: designing new strategies in the era of promising therapeutic perspectives[J]. Kidney Int Rep, 2020, 5(12): 2136-2145. DOI: 10.1016/j.ekir.2020.09.022.
    [13] COCHAT P, RUMSBY G. Primary hyperoxaluria[J]. N Engl J Med, 2013, 369(7): 649-658. DOI: 10.1056/NEJMra1301564.
    [14] GARRELFS SF, RUMSBY G, PETERS-SENGERS H, et al. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up[J]. Kidney Int, 2019, 96(6): 1389-1399. DOI: 10.1016/j.kint.2019.08.018.
    [15] HOSAAGRAHARA RAMAKRISHNA S, HASSAN A, KASALA MB, et al. Pediatric combined living donor liver and kidney transplantation for primary hyperoxaluria type 2[J]. Am J Transplant, 2023, 23(10): 1622-1625. DOI: 10.1016/j.ajt.2023.05.006.
    [16] MANDRILE G, BECK B, ACQUAVIVA C, et al. Genetic assessment in primary hyperoxaluria: why it matters[J]. Pediatr Nephrol, 2023, 38(3): 625-634. DOI: 10.1007/s00467-022-05613-2.
    [17] 詹睿超, 葛玉成, 张道新, 等. 原发性高草酸尿症基因型与表型的研究进展[J]. 国际外科学杂志, 2021, 48(3): 203-207. DOI: 10.3760/cma.j.cn115396-20200319-00072.

    ZHAN RC, GE YC, ZHANG DX, et al. Research progress on genotype and phenotype of primary hyperoxaluria[J]. Int J Surg, 2021, 48(3): 203-207. DOI: 10.3760/cma.j.cn115396-20200319-00072.
    [18] GROOTHOFF JW, METRY E, DEESKER L, et al. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope[J]. Nat Rev Nephrol, 2023, 19(3): 194-211. DOI: 10.1038/s41581-022-00661-1.
    [19] ZHAO F, BERGSTRALH EJ, MEHTA RA, et al. Predictors of incident ESRD among patients with primary hyperoxaluria presenting prior to kidney failure[J]. Clin J Am Soc Nephrol, 2016, 11(1): 119-126. DOI: 10.2215/CJN.02810315.
    [20] INJEYAN M, BIDAULT V, BACCHETTA J, et al. Hydration and nephrolithiasis in pediatric populations: specificities and current recommendations[J]. Nutrients, 2023, 15(3): 728. DOI: 10.3390/nu15030728.
    [21] 冯潇雨, 程娜, 张荣军, 等. 儿童原发性高草酸尿症1型1例并文献复习[J]. 中国临床研究, 2021, 34(9): 1245-1249. DOI: 10.13429/j.cnki.cjcr.2021.09.021.

    FENG XY, CHENG N, ZHANG RJ, et al. A case of primary hyperoxaluria type 1 in children and literature review[J]. Chin J Clin Res, 2021, 34(9): 1245-1249. DOI: 10.13429/j.cnki.cjcr.2021.09.021.
    [22] BHASIN B, ÜREKLI HM, ATTA MG. Primary and secondary hyperoxaluria: understanding the enigma[J]. World J Nephrol, 2015, 4(2): 235-244. DOI: 10.5527/wjn.v4.i2.235.
    [23] BOSE KS, SARMA RH. Delineation of the intimate details of the backbone conformation of pyridine nucleotide coenzymes in aqueous solution[J]. Biochem Biophys Res Commun, 1975, 66(4): 1173-1179. DOI: 10.1016/0006-291x(75)90482-9.
    [24] MASSY ZA, DRUEKE TB. Running interference: lumasiran and other RNA interference therapeutics for kidney diseases[J]. Kidney Int, 2022, 101(2): 208-211. DOI: 10.1016/j.kint.2021.05.027.
    [25] METRY EL, VAN DIJK LMM, PETERS-SENGERS H, et al. Transplantation outcomes in patients with primary hyperoxaluria: a systematic review[J]. Pediatr Nephrol, 2021, 36(8): 2217-2226. DOI: 10.1007/s00467-021-05043-6.
    [26] CORNELL LD, AMER H, VIEHMAN JK, et al. Posttransplant recurrence of calcium oxalate crystals in patients with primary hyperoxaluria: incidence, risk factors, and effect on renal allograft function[J]. Am J Transplant, 2022, 22(1): 85-95. DOI: 10.1111/ajt.16732.
    [27] GUPTA A, SOMERS MJG, BAUM MA. Treatment of primary hyperoxaluria type 1[J]. Clin Kidney J, 2022, 15(Suppl 1): i9-i13. DOI: 10.1093/ckj/sfab232.
    [28] LAM CW, YUEN YP, LAI CK, et al. Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor[J]. Am J Kidney Dis, 2001, 38(6): 1307-1310. DOI: 10.1053/ajkd.2001.29229.
    [29] NADERI G, LATIF A, TABASSOMI F, et al. Failure of isolated kidney transplantation in a pediatric patient with primary hyperoxaluria type 2[J]. Pediatr Transplant, 2014, 18(3): E69-E73. DOI: 10.1111/petr.12240.
    [30] LIU S, GAO B, WANG G, et al. Recurrent primary hyperoxaluria type 2 leads to early post-transplant renal function loss: a case report[J]. Exp Ther Med, 2018, 15(4): 3169-3172. DOI: 10.3892/etm.2018.5841.
    [31] DHONDUP T, LORENZ EC, MILLINER DS, et al. Combined liver-kidney transplantation for primary hyperoxaluria type 2: a case report[J]. Am J Transplant, 2018, 18(1): 253-257. DOI: 10.1111/ajt.14418.
    [32] DEL BELLO A, COINTAULT O, DELAS A, et al. Recurrence of oxalate nephropathy after isolated kidney transplantation for primary hyperoxaluria type 2[J]. Am J Transplant, 2018, 18(2): 525-526. DOI: 10.1111/ajt.14550.
    [33] DEL BELLO A, COINTAULT O, DELAS A, et al. Primary hyperoxaluria type 2 successfully treated with combined liver-kidney transplantation after failure of isolated kidney transplantation[J]. Am J Transplant, 2020, 20(6): 1752-1753. DOI: 10.1111/ajt.15829.
    [34] JIA Z, ZHONG Q, LIN T, et al. Subsequent liver transplantation did not reverse recurrence of oxalate nephropathy after isolated kidney transplantation for primary type 2 hyperoxaluria[J]. Asian J Surg, 2022, 45(1): 483-485. DOI: 10.1016/j.asjsur.2021.08.066.
    [35] GENENA KM, SAS DJ, MILLINER DS, et al. Successful treatment of primary hyperoxaluria type 2 with a combined liver and kidney transplant[J]. Kidney Int Rep, 2023, 8(7): 1469-1472. DOI: 10.1016/j.ekir.2023.03.013.
    [36] YAU AA, HINDI J, URIBARRI J. Recurrent nephrolithiasis causing kidney failure[J]. Am J Kidney Dis, 2021, 77(4): A18-A21. DOI: 10.1053/j.ajkd.2020.04.020.
    [37] MONICO CG, MILLINER DS. Combined liver-kidney and kidney-alone transplantation in primary hyperoxaluria[J]. Liver Transpl, 2001, 7(11): 954-963. DOI: 10.1053/jlts.2001.28741.
    [38] SHASHA-LAVSKY H, AVNI A, PAZ Z, et al. Long-term outcomes after pre-emptive liver transplantation in primary hyperoxaluria type 1[J]. Pediatr Nephrol, 2023, 38(6): 1811-1820. DOI: 10.1007/s00467-022-05803-y.
  • 加载中
图(1) / 表(1)
计量
  • 文章访问数:  395
  • HTML全文浏览量:  203
  • PDF下载量:  39
  • 被引次数: 0
出版历程
  • 收稿日期:  2023-07-23
  • 录用日期:  2023-09-19
  • 网络出版日期:  2023-10-11
  • 刊出日期:  2023-11-09

目录

    /

    返回文章
    返回