Kidney transplantation from donors with Marfan syndrome: report of 2 cases and literature review
-
摘要:
目的 探讨马方综合征（MFS）患者供肾肾移植的可行性及临床经验。 方法 回顾性分析接受同一MFS患者供肾的2例受者临床资料及既往文献中2例相关报道，总结MFS患者供肾肾移植的特点和临床诊疗要点。 结果 该MFS患者左、右侧供肾零点穿刺Remuzzi评分分别为1分、2分，肾内小动脉壁与其他脑死亡及心脏死亡供肾相比无明显差异。接受该MFS患者肾脏的2例受者术后均发生移植物功能延迟恢复，短暂血液透析后，左肾受者、右肾受者的移植肾功能分别于术后10 d和20 d起开始逐渐恢复。出院后左肾受者的血清肌酐稳定于80～90 μmol/L，右肾受者的血清肌酐仍在下降，截至投稿日，血清肌酐最低为232 μmol/L（术后43 d）。既往文献中报道了2例成功使用同一MFS患者供肾的肾移植案例，2例受者均发生了移植物功能延迟恢复，而后肾功能均恢复正常，截至报道日期，其中1例受者持续存活了6年，另外1例受者于术后第2年因新发脑血管疾病而死亡。 结论 MFS患者是可接受的供肾来源，但术前应审慎评估受者意愿和一般状况，术中妥善处理可能的肾动脉中膜撕裂，术后警惕各类并发症的发生。 Abstract:Objective To investigate the feasibility and clinical experience of kidney transplantation from donors with Marfan syndrome (MFS). Methods Clinical data of 2 recipients undergoing kidney transplantation from the same MFS patient were retrospectively analyzed and literature review of 2 cases was conducted. Characteristics and clinical diagnosis and treatment of kidney transplantation from MFS patients were summarized. Results The Remuzzi scores of the left and right donor kidneys of the MFS patient during time-zero biopsy were 1 and 2. No significant difference was observed in the renal arteriole wall compared with other donors of brain death and cardiac death. Two recipients who received kidney transplantation from the MFS patient suffered from postoperative delayed graft function. After short-term hemodialysis, the graft function of the recipients received the left and right kidney began to gradually recover at postoperative 10 d and 20 d. After discharge, serum creatinine level of the recipient received the left kidney was ranged from 80 to 90 μmol/L, whereas that of the recipient received the right kidney kept declining, and the lowest serum creatinine level was 232 μmol/L before the submission date (at postoperative 43 d). Through literature review, two cases successfully undergoing kidney transplantation from the same MFS donor were reported. Both two recipients experienced delayed graft function, and then renal function was restored to normal. Until the publication date, 1 recipient has survived for 6 years, and the other recipient died of de novo cerebrovascular disease at postoperative 2 years. Conclusions MFS patients may serve as an acceptable source of kidney donors. However, the willingness and general conditions of the recipients should be carefully evaluated before kidney transplantation. Intraoperatively, potential risk of tear of renal arterial media should be properly treated. Extensive attention should be paid to the incidence of postoperative complications. -
Key words:
- Kidney transplantation /
- Marfan syndrome /
- Hereditary disease /
- Arterial dissection /
- Delayed graft function /
- Fibrillin-1 /
- Biopsy /
- Remuzzi score
-
图 1 供者胸部CT表现
注：供者CT示主动脉夹层，为Stanford A型，夹层累及升主动脉（红色箭头所示）。
Figure 1. Chest CT manifestations of the donor
图 2 供肾零点穿刺活检的病理表现（糖原染色，×400）
注：A图示左肾未见肾小球球性硬化，未见肾小球节段性硬化，可见肾小管萎缩；B图示右肾可见1个肾小球球性硬化，未见肾小球节段性硬化。
Figure 2. Pathological findings of time-zero biopsy of the donor kidney
图 3 MFS供者与正常供者的血管病理切片（Verhoeff's Van Gieson染色，×200）
注：A图为正常供者髂动脉；B图为MFS供者髂动脉，可见中膜弹力纤维排列紊乱，有较多断裂的弹力纤维（红色箭头）；C图为MFS供者肾穿刺组织的小动脉未见明显病变（红色箭头）。
Figure 3. The vascular pathological sections of the MFS donor and normal donor
图 4 左侧供肾受者术后尿量及血清肌酐变化趋势
Figure 4. Trends of postoperative urinary volume and serum creatinine in the recipient received the left donor kidney
图 5 左侧供肾受者术后移植肾及移植肾血管彩超结果
注：A图为术后1 d移植肾及移植肾血管彩超示肾内血流信号欠佳，肾动脉血流速度偏低；B图为术后12 d移植肾及移植肾血管彩超示肾内血流丰富，血管走行显示清晰。
Figure 5. Color Doppler ultrasound results of postoperative renal allograft and renal allograft vessels in the recipient received the left donor kidney
图 6 右侧供肾受者术后尿量及血清肌酐变化趋势
Figure 6. Trends of postoperative urinary volume and serum creatinine in the recipient received the right donor kidney
-
[1] CONNOLLY HM, NIAZ T, BOWEN JM. What is Marfan syndrome?[J]. JAMA, 2023, 329(18): 1618. DOI: 10.1001/jama.2023.3826. [2] SAKAI LY, KEENE DR, RENARD M, et al. FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders[J]. Gene, 2016, 591(1): 279-291. DOI: 10.1016/j.gene.2016.07.033. [3] MILEWICZ DM, BRAVERMAN AC, DE BACKER J, et al. Marfan syndrome[J]. Nat Rev Dis Primers, 2021, 7(1): 64. DOI: 10.1038/s41572-021-00298-7. [4] ZEIGLER SM, SLOAN B, JONES JA. Pathophysiology and pathogenesis of Marfan syndrome[J]. Adv Exp Med Biol, 2021, 1348: 185-206. DOI: 10.1007/978-3-030-80614-9_8. [5] DU Q, ZHANG D, ZHUANG Y, et al. The molecular genetics of Marfan syndrome[J]. Int J Med Sci, 2021, 18(13): 2752-2766. DOI: 10.7150/ijms.60685. [6] PEETERS S, DE KINDEREN P, MEESTER JAN, et al. The fibrillinopathies: new insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2[J]. Hum Mutat, 2022, 43(7): 815-831. DOI: 10.1002/humu.24383. [7] 赵立玲, 刘升平, 胡文沐, 等. FBN1基因新变异所致马凡综合征患儿1例的分析[J]. 中华医学遗传学杂志, 2023, 40(1): 62-65. DOI: 10.3760/cma.j.cn511374-20210630-00554.ZHAO LL, LIU SP, HU WM, et al. Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene[J]. Chin J Med Genet, 2023, 40(1): 62-65. DOI: 10.3760/cma.j.cn511374-20210630-00554. [8] ȘULEA CM, MÁRTONFALVI Z, CSÁNYI C, et al. Nanoscale structural comparison of fibrillin-1 microfibrils isolated from Marfan and non-Marfan syndrome human aorta[J]. Int J Mol Sci, 2023, 24(8): 7561. DOI: 10.3390/ijms24087561. [9] CHEN ZX, JIA WN, JIANG YX. Genotype-phenotype correlations of Marfan syndrome and related fibrillinopathies: phenomenon and molecular relevance[J]. Front Genet, 2022, 13: 943083. DOI: 10.3389/fgene.2022.943083. [10] WANG L, XU X, ZHANG M, et al. Prevalence of chronic kidney disease in china: results from the sixth china chronic disease and risk factor surveillance[J]. JAMA Intern Med, 2023, 183(4): 298-310. DOI: 10.1001/jamainternmed.2022.6817. [11] 黄洁夫. 中国器官移植发展报告(2019)[M]. 北京: 清华大学出版社, 2020. [12] HU XP, YIN H, ZHANG XD. Evaluation and treatment of marginal grafts with surgical diseases in kidney transplantation[J]. Chin Med J (Engl), 2012, 125(3): 461-464. [13] SHARMA N, MAHAJAN A, QAZI YA. Marginal kidney transplantation: the road less traveled[J]. Curr Opin Organ Transplant, 2019, 24(1): 92-96. DOI: 10.1097/MOT.0000000000000603. [14] FARESE S, VOGT B, FREY FJ, et al. Successful kidney transplantation from donor with Marfan's syndrome[J]. Am J Transplant, 2006, 6(8): 1972-1974. DOI: 10.1111/j.1600-6143.2006.01389.x. [15] MILLERON O, ARNOULT F, DELORME G, et al. Pathogenic FBN1 genetic variation and aortic dissection in patients with Marfan syndrome[J]. J Am Coll Cardiol, 2020, 75(8): 843-853. DOI: 10.1016/j.jacc.2019.12.043. [16] ROMAN MJ, DEVEREUX RB. Aortic dissection risk in Marfan syndrome[J]. J Am Coll Cardiol, 2020, 75(8): 854-856. DOI: 10.1016/j.jacc.2019.12.042. [17] BRAVERMAN AC. Aortic dissection in Marfan syndrome: protect the tube of life[J]. J Am Coll Cardiol, 2023,DOI: 10.1016/j.jacc.2023.08.054[Epub ahead of print [18] VON KODOLITSCH Y, DEMOLDER A, GIRDAUSKAS E, et al. Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease[J]. Expert Rev Cardiovasc Ther, 2019, 17(12): 883-915. DOI: 10.1080/14779072.2019.1704625. [19] STENGL R, ÁGG B, SZILVESZTER B, et al. Case report: morphological characterization and long-term observation of bilateral sequential internal mammary artery aneurysms in a patient with confirmed FBN1 mutation[J]. Front Cardiovasc Med, 2021, 8: 697591. DOI: 10.3389/fcvm.2021.697591. [20] AWAIS M, WILLIAMS DM, DEEB GM, et al. Aneurysms of medium-sized arteries in Marfan syndrome[J]. Ann Vasc Surg, 2013, 27(8): 1188.e5-e7. DOI: 10.1016/j.avsg.2012.12.002. [21] DE SOUZA RB, LEMES RB, FORESTO-NETO O, et al. Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome[J]. PLoS One, 2023, 18(5): e0285418. DOI: 10.1371/journal.pone.0285418. [22] BOSEMAN P, LEWIN M, DILLON J, et al. Marfan syndrome, MPGN, and bacterial endocarditis[J]. Am J Kidney Dis, 2008, 51(4): 697-701. DOI: 10.1053/j.ajkd.2007.08.031. [23] CHOW K, PYERITZ RE, LITT HI. Abdominal visceral findings in patients with Marfan syndrome[J]. Genet Med, 2007, 9(4): 208-212. DOI: 10.1097/gim.0b013e3180423cb3. [24] BOULETI C, FLAMANT M, ESCOUBET B, et al. Risk of ascending aortic aneurysm in patients with autosomal dominant polycystic kidney disease[J]. Am J Cardiol, 2019, 123(3): 482-488. DOI: 10.1016/j.amjcard.2018.10.030. [25] SBAR GD, VENKATASESHAN VS, HUANG Z, et al. Renal disease in Marfan syndrome[J]. Am J Nephrol, 1996, 16(4): 320-326. DOI: 10.1159/000169017. [26] LI L, LIAO J, YUAN Q, et al. Fibrillin-1-enriched microenvironment drives endothelial injury and vascular rarefaction in chronic kidney disease[J]. Sci Adv, 2021, 7(5): eabc7170. DOI: 10.1126/sciadv.abc7170. [27] MIAO C, ZHU X, WEI X, et al. Pro- and anti-fibrotic effects of vascular endothelial growth factor in chronic kidney diseases[J]. Ren Fail, 2022, 44(1): 881-892. DOI: 10.1080/0886022X.2022.2079528. [28] HARTNER A, SCHAEFER L, PORST M, et al. Role of fibrillin-1 in hypertensive and diabetic glomerular disease[J]. Am J Physiol Renal Physiol, 2006, 290(6): F1329-F1336. DOI: 10.1152/ajprenal.00284.2005. [29] 中华医学会器官移植学分会. 肾移植术后移植物功能延迟恢复诊疗技术规范(2019版)[J]. 器官移植, 2019, 10(5): 521-525. DOI: 10.3969/j.issn.1674-7445.2019.05.010.Branch of Organ Transplantation of Chinese Medical Association. Technical specification for the diagnosis and treatment on delayed graft function after renal transplantation (2019 edition)[J]. Organ Transplant, 2019, 10(5): 521-525. DOI: 10.3969/j.issn.1674-7445.2019.05.010. [30] WARMUZIŃSKA N, ŁUCZYKOWSKI K, BOJKO B. A review of current and emerging trends in donor graft-quality assessment techniques[J]. J Clin Med, 2022, 11(3): 487. DOI: 10.3390/jcm11030487. [31] VILLANEGO F, VIGARA LA, CAZORLA JM, et al. Evaluation of expanded criteria donors using the kidney donor profile index and the preimplantation renal biopsy[J]. Transpl Int, 2022, 35: 10056. DOI: 10.3389/ti.2022.10056. [32] SHARIF A. Deceased donor characteristics and kidney transplant outcomes[J]. Transpl Int, 2022, 35: 10482. DOI: 10.3389/ti.2022.10482. [33] HAI Y, CHONG W, LIU JB, et al. The diagnostic value of contrast-enhanced ultrasound for monitoring complications after kidney transplantation-a systematic review and meta-analysis[J]. Acad Radiol, 2021, 28(8): 1086-1093. DOI: 10.1016/j.acra.2020.05.009. [34] BAHL D, HADDAD Z, DATOO A, et al. Delayed graft function in kidney transplantation[J]. Curr Opin Organ Transplant, 2019, 24(1): 82-86. DOI: 10.1097/MOT.0000000000000604. [35] GAO F, CHEN Z, GAO F, et al. Spontaneous renal artery dissection complicated by renal infarction: description of two cases[J]. Quant Imaging Med Surg, 2022, 12(10): 4972-4978. DOI: 10.21037/qims-22-342. [36] CAÑO-VELASCO J, POLANCO-PUJOL L, GONZÁLEZ-GARCÍA J, et al. Renal artery infectious (mycotic) pseudoaneurysms in renal transplantation recipients[J]. Actas Urol Esp (Engl Ed), 2021, 45(5): 335-344. DOI: 10.1016/j.acuroe.2021.04.009. [37] 王湘, 李刚, 马琼, 等. 马凡综合征合并主动脉夹层患者的外科治疗[J]. 岭南心血管病杂志, 2022, 28(5): 423-426. DOI: 10.3969/j.issn.1007-9688.2022.05.08.WANG X, LI G, MA Q, et al. Surgical treatment of patients with Marfan syndrome and aortic dissection[J]. South China J Cardiovasc Dis, 2022, 28(5): 423-426. DOI: 10.3969/j.issn.1007-9688.2022.05.08. [38] MAYHEW M, SOLOMON R, LAGUARDIA H, et al. Vascular complications in renal transplantation: surgical salvage of renal artery dissection[J]. Transplant Direct, 2022, 8(6): e1340. DOI: 10.1097/TXD.00000000000 01340. -
下载:
点击查看大图
图(8)
计量
- 文章访问数: 213
- HTML全文浏览量: 91
- PDF下载量: 35
- 被引次数: 0
