Zhao Yijun,Zhu Linfeng,Yang Fan,et al.Treatment of renal artery aneurysm related to neurofibromatosis type 1 with renal autotransplantation in children:one case report with a literature review[J].Journal of Clinical Pediatric Surgery,2025,(08):781-785.[doi:10.3760/cma.j.cn101785-202502006-014]
儿童自体肾移植治疗Ⅰ型神经纤维瘤病致肾动脉瘤1例并文献复习
- Title:
- Treatment of renal artery aneurysm related to neurofibromatosis type 1 with renal autotransplantation in children:one case report with a literature review
- Keywords:
- Neurofibromatosis Type 1; Renal Artery Aneurysm; Kidney Transplantation; Surgical Procedures; Operative; Treatment Outcome; Child
- 摘要:
- 目的 探讨Ⅰ型神经纤维瘤病致肾动脉瘤的临床特点、诊治经验及儿童自体肾移植治疗Ⅰ型神经纤维瘤病致肾动脉瘤的预后。方法 回顾性分析浙江大学医学院附属儿童医院收治的1例自体肾移植治疗Ⅰ型神经纤维瘤病致肾动脉瘤患儿临床资料。以"neurofibromatosis type 1"、"renal artery aneurysm"和"kidney autotransplantation"为检索词,检索PubMed、Medline及Web of Science数据库中相关文献;以"Ⅰ型神经纤维瘤病"、"肾动脉瘤"和"自体肾移植"为检索词,检索万方数据库、中国知网及维普数据库中相关文献;检索时间均为1980年1月1日至2024年12月31日;排除重复文献后进行文献复习,总结该疾病的临床特点、诊治及预后情况。结果 患儿男,13岁11个月,因血压增高15 d入院,测得血压:146/96 mmHg(左上肢)、168/93 mmHg(右上肢)、177/99 mmHg(左下肢)、172/96 mmHg(右下肢),全身皮肤可见大量散在咖啡牛奶斑。CT血管造影提示左肾动脉近肾门处瘤样扩张,肾血管B超提示左肾动脉中段分支,分支血管呈瘤样扩张。口服降压药效果差,行"左肾切除+左肾动脉瘤切除+左肾动脉重建+自体肾移植术"。术后移植肾分支动脉闭塞,随访3个月,口服降压药物下血压正常,复查CT移植肾稍小,血供正常。共获得4篇符合纳入与排除标准文献,结合本例共5例自体肾移植治疗Ⅰ型神经纤维瘤病致肾动脉瘤患者,其中男性2例、女性3例;平均年龄21岁(13~28岁),直径1.0~2.4 cm,4例因高血压就诊,均行"自体肾移植+肾动脉重建术",术后4例高血压患者中,2例加用口服降压药后血压得到有效控制。结论 Ⅰ型神经纤维瘤病致肾动脉瘤在儿童罕见,多以高血压为首发症状,儿童自体肾移植手术治疗安全且效果较好。
- Abstract:
- Objective To explore the clinical characteristics,diagnostics and treatments of renal artery aneurysm related to neurofibromatosis type 1,as well as the prognosis of pediatric renal autotransplantation. Methods Retrospective analysis was performed for clinical data of a child with renal artery aneurysm related to neurofibromatosis type 1,who underwent renal autotransplantation.The databases of PubMed,MEDLINE,Web of Science,Wanfang,China National Knowledge Infrastructure (CNKI) and VIP were searched with such keywords as "neurofibromatosis type 1","renal artery aneurysm" and "kidney autotransplantation".The searching started from January 1980 to December 2024.Duplicate literatures were excluded and clinical features,diagnosis,treatment and prognosis summarized. Results A 167-month-old boy was admitted with a 15-day history of elevated blood pressure.Upon admission,blood pressure measurements were 146/96 mmHg (left arm),168/93 mmHg (right arm),177/99 mmHg (left leg) and 172/96 mmHg (right leg).Multiple scattered café-au-lait dermal spots were noted.Computed tomography angiography (CTA) revealed fusiform dilation at renal hilum near left renal artery.And renal Doppler ultrasound identified a segmental branch of left renal artery with fusiform dilation in its midportion.The response to oral antihypertensive medication was poor.Ultimately,left nephrectomy,resection of left renal artery aneurysm,reconstruction of left renal artery and renal autotransplantation were performed.Postoperatively,transplant kidney developed occlusion of renal artery branches.Over a 3-month follow-up period,blood pressure normalized with oral antihypertensive agents.CTA hinted at transplant kidney slightly smaller with normal blood supply.Four cases were collected from literature searching.Among a total of 5 eligible cases,there were 2 males and 3 females with an average age of 21(13-28) year and an average diameter of (1.0-2.4) cm.Four of them presented with hypertension.Renal autotransplantation with renal artery reconstruction was performed.In two hypertensive cases,blood pressure was controlled after additional use of oral antihypertensive agents. Conclusions Renal artery aneurysm related to neurofibromatosis type is rare in children.And hypertension is a common initial symptom.Pediatric renal autotransplantation is both safe and effective.
参考文献/References:
[1] Reynolds RM,Browning GGP,Nawroz I,et al.Von Reckling-hausen’s neurofibromatosis:neurofibromatosis type 1[J].Lancet,2003,361(9368):1552-1554.DOI:10.1016/s0140-6736(03)13166-2.
[2] Oderich GS,Sullivan TM,Bower TC,et al.Vascular abnormalities in patients with neurofibromatosis syndrome type I:clinical spectrum,management,and results[J].J Vasc Surg,2007,46(3):475-484.DOI:10.1016/j.jvs.2007.03.055.
[3] Drucker NA,Blaibel MF,Nagaraju S,et al.Renal autotransplant and celiac artery bypass for aneurysmal degeneration related to neurofibromatosis type 1[J].Vasc Endovascular Surg,2019,53(6):497-500.DOI:10.1177/1538574419846711.
[4] Han M,Criado E.Renal artery stenosis and aneurysms associated with neurofibromatosis[J].J Vasc Surg,2005,41(3):539-543.DOI:10.1016/j.jvs.2004.12.021.
[5] Watano K,Okamoto H,Takagi C,et al.Neurofibromatosis complicated with XXX syndrome and renovascular hypertension[J].J Intern Med,1996,239(6):531-535.DOI:10.1046/j.1365-2796.1996.422778000.x.
[6] Gui X,Zheng Y.Renal artery aneurysm at the hilum secondary to neurofibromatosis type I[J].Eur J Vasc Endovasc Surg,2015,49(4):464.DOI:10.1016/j.ejvs.2015.01.022.
[7] Rauen KA.The RASopathies[J].Annu Rev Genomics Hum Genet,2013,14:355-369.DOI:10.1146/annurev-genom-091212-153523.
[8] Santoro C,Pacileo G,Limongelli G,et al.LEOPARD syndrome:clinical dilemmas in differential diagnosis of RASopathies[J].BMC Med Genet,2014,15:44.DOI:10.1186/1471-2350-15-44.
[9] Santoro C,Giugliano T,Melone MAB,et al.Multiple spinal nerve enlargement and SOS1 mutation:further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype[J].Clin Genet,2018,93(1):138-143.DOI:10.1111/cge.13047.
[10] Legius E,Messiaen L,Wolkenstein P,et al.Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome:an international consensus recommendation[J].Genet Med,2021,23(8):1506-1513.DOI:10.1038/s41436-021-01170-5.
[11] Melloni G,Eoli M,Cesaretti C,et al.Risk of optic pathway glioma in neurofibromatosis type 1:no evidence of genotype-phenotype correlations in a large independent cohort[J].Cancers (Basel),2019,11(12):1838.DOI:10.3390/cancers11121838.
[12] Machado M,Machado R,Almeida R.Renal autotransplantation for the treatment of renal artery aneurysm[J].Ann Vasc Surg,2022,79:226-232.DOI:10.1016/j.avsg.2021.07.048.
[13] Henke PK,Cardneau JD,Welling TH,et al.Renal artery aneurysms:a 35-year clinical experience with 252 aneurysms in 168 patients[J].Ann Surg,2001,234(4):454-463.DOI:10.1097/00000658-200110000-00005.
[14] Lawrence PF,Baril DT,Woo K.Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium[J].J Vasc Surg,2020,72(3):1005-1010.DOI:10.1016/j.jvs.2019.11.029.
[15] Choksi H,Singla A,Yoon P,et al.Outcomes of endovascular,open surgical and autotransplantation techniques for renal artery aneurysm repair:a systematic review and meta-analysis[J].ANZ J Surg,2023,93(10):2303-2313.DOI:10.1111/ans.18628.
[16] Klausner JQ,Lawrence PF,Harlander-Locke MP,et al.The contemporary management of renal artery aneurysms[J].J Vasc Surg,2015,61(4):978-984.DOI:10.1016/j.jvs.2014.10.107.
[17] Jayet J,Davaine JM,Tresson P,et al.Direct distal renal artery aneurysm repair[J].Eur J Vasc Endovasc Surg,2020,60(2):211-218.DOI:10.1016/j.ejvs.2020.04.016.
[18] Lumsden AB,Salam TA,Walton KG.Renal artery aneurysm:a report of 28 cases[J].Cardiovasc Surg,1996,4(2):185-189.DOI:10.1016/0967-2109(96)82312-x.
[19] Chaer RA,Abularrage CJ,Coleman DM,et al.The Society for Vascular Surgery clinical practice guidelines on the management of visceral aneurysms[J].J Vasc Surg,2020,72(1S):3S-39S.DOI:10.1016/j.jvs.2020.01.039.
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备注/Memo
收稿日期:2025-2-5。
基金项目:浙江省科技厅公益技术应用研究项目(LGF22H050004)
通讯作者:陈光杰,Email:dr.chenguangjie@zju.edu.cn