[1]刘纪兰,刘海燕.Klippel-Trenaunay综合征的研究进展[J].临床小儿外科杂志,2025,(03):292-295.[doi:10.3760/cma.j.cn101785-202111013-017]
　Liu Jilan,Liu Haiyan.Research advances in Klippel-Trenaunay syndrome in children[J].Journal of Clinical Pediatric Surgery,2025,(03):292-295.[doi:10.3760/cma.j.cn101785-202111013-017]
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Klippel-Trenaunay综合征的研究进展

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 期数: 2025年03 页码: 292-295 栏目: 综述 出版日期: 2025-03-28
Title:
Research advances in Klippel-Trenaunay syndrome in children
作者:
刘纪兰1;  刘海燕2
1. 临沂市妇幼保健院 上海交通大学附属上海儿童医学中心临沂医院小儿消化内科, 临沂 276000;
2. 山东第一医科大学附属省立医院儿科, 济南 250021
Author(s):
Liu Jilan1;  Liu Haiyan2
1. Department of Pediatric Gastroenterology, Linyi Maternal & Children’s Healthcare Hospital, Linyi Branch of Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Linyi 276000, China;
2. Department of Pediatrics, Affiliated Shandong Provincial Hospital, Shandong First Medical University, Jinan 250021, China
关键词:
Klippel-Trenaunay综合征; 静脉畸形; 管理; 淋巴管畸形; PIK3CA基因
Keywords:
Klippel-Trenaunay Syndrome; Venous Malformations; Management; Lymphatic Malformations; PIK3CA Gene
DOI:
10.3760/cma.j.cn101785-202111013-017
摘要:
Klippel-Trenaunay综合征(Klippel-Trenaunay syndrome,KTS)是一种以毛细血管畸形、静脉畸形、肢体肥大为主要表现的过度生长综合征,大多数于新生儿期、婴儿早期、儿童期被发现。目前其病因及发病机制正在进一步研究中,多与体细胞PIK3CA基因突变相关。患儿临床表现多样,不同脏器系统受累可引起相应的并发症。目前本病尚无法根治,以保守治疗为主,主要的管理目标是早期诊断,尽早干预,减少并发症,促进患儿健康发育,提高生活质量。
Abstract:
Klippel Trenaunay syndrome (KTS) is an overgrowth syndrome characterized by capillary malformations,venous malformations,extremity hypertrophy and with or without lymphatic malformations.It frequently occurs in neonates,infants and toddlers.Its etiology and pathogenesis have been associated with mutations in somatic PIK3CA gene.Its clinical manifestations are diverse and affect different organ systems.Currently there is no cure and conservative measures are applied.The major goals are early diagnosis,early intervention,reducing complications,promoting healthy development and improving quality-of-life.

参考文献/References:

[1] Volz KR,Kanner CD,Evans J,et al.Klippel-Trénaunay syndro-me:need for careful clinical classification[J].J Ultrasound Med,2016,35(9):2057-2065.DOI:10.7863/ultra.15.08007.
[2] Asghar F,Aqeel R,Farooque U,et al.Presentation and management of Klippel-Trenaunay syndrome:a review of available data[J].Cureus,2020,12(5):e8023.DOI:10.7759/cureus.8023.
[3] Deka JB,Deka NK,Shah MV,et al.Intraneural hemangioma in Klippel-Trenaunay syndrome:role of musculo-skeletal ultrasound in diagnosis-case report and review of the literature[J].J Ultrasound,2020,23(3):435-442.DOI:10.1007/s40477-020-00434-1.
[4] Bertino F,Braithwaite KA,Hawkins CM,et al.Congenital limb overgrowth syndromes associated with vascular anomalies[J].Radiographics,2019,39(2):491-515.DOI:10.1148/rg.2019180136.
[5] di Blasio L,Puliafito A,Gagliardi PA,et al.PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations[J].Cell Death Dis,2018,9(2):45.DOI:10.1038/s41419-017-0064-x.
[6] Palmieri M,Pinto AM,di Blasio L,et al.A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome[J].Vascular,2021,29(1):85-91.DOI:10.1177/1708538120936421.
[7] Vahidnezhad H,Youssefian L,Uitto J.Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS)[J].Exp Dermatol,2016,25(1):17-19.DOI:10.1111/exd.12826.
[8] Le Cras TD,Boscolo E.Cellular and molecular mechanisms of PIK3CA-related vascular anomalies[J].Vasc Biol,2019,1(1):H33-H40.DOI:10.1530/VB-19-0016.
[9] Blatt J,Finger M,Price V,et al.Cancer risk in Klippel-Trenaunay syndrome[J].Lymphat Res Biol,2019,17(6):630-636.DOI:10.1089/lrb.2018.0049.
[10] Al-Najjar RM,Fonseca R.An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly:a case report[J].BMC Pediatr,2019,19(1):95.DOI:10.1186/s12887-019-1480-0.
[11] Sharma D,Lamba S,Pandita A,et al.Klippel-Trénaunay syndrome-a very rare and interesting syndrome[J].Clin Med Insights Circ Respir Pulm Med,2015,9:1-4.DOI:10.4137/CCRPM.S21645.
[12] Brimley C,Griessenauer CJ,Schirmer CM,et al.Moyamoya syndrome in a patient with Klippel-Trenaunay syndrome[J].Cureus,2020,12(12):e11906.DOI:10.7759/cureus.11906.
[13] Oda K,Morimoto D,Kim K,et al.Spinal cavernous angioma associated with Klippel-Trenaunay-Weber syndrome:case report and literature review[J].World Neurosurg,2018,109:333-337.DOI:10.1016/j.wneu.2017.10.040.
[14] Covington TN,Anderson KR,Tollefson MM,et al.Intracranial and extracranial vascular manifestations of patients with a clinical diagnosis of Klippel-Trenaunay syndrome[J].Neuroradiology,2021,63(3):409-415.DOI:10.1007/s00234-020-02560-3.
[15] Wang SK,Drucker NA,Gupta AK,et al.Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome[J].J Vasc Surg Venous Lymphat Disord,2017,5(4):587-595.DOI:10.1016/j.jvsv.2016.10.084.
[16] John PR.Klippel-Trenaunay syndrome[J].Tech Vasc Interv Radiol,2019,22(4):100634.DOI:10.1016/j.tvir.2019.100634.
[17] Gupta U,Sarker P,Chowdhury T.Klipple-trenaunay syndrome:a rare disorder with multisystemic clinical attributes[J].Cureus,2021,13(11):e19776.DOI:10.7759/cureus.19776.
[18] Reis J 3rd,Alomari AI,Trenor CC 3rd,et al.Pulmonary thromboembolic events in patients with congenital lipomatous overgrowth,vascular malformations,epidermal nevi,and spinal/skeletal abnormalities and Klippel-Trénaunay syndrome[J].J Vasc Surg Venous Lymphat Disord,2018,6(4):511-516.DOI:10.1016/j.jvsv.2018.01.015.
[19] Seferian A,Ja?s X,Savale L,et al.Klippel-Trenaunay syndrome as a rare cause of chronic thromboemboembolic pulmonary hypertension[J].Respir Med Res,2019,76:48-53.DOI:10.1016/j.resmer.2019.06.002.
[20] Harvey JA,Nguyen H,Anderson KR,et al.Pain,psychiatric comorbidities,and psychosocial stressors associated with Klippel-Trenaunay syndrome[J].J Am Acad Dermatol,2018,79(5):899-903.DOI:10.1016/j.jaad.2018.05.1245.
[21] Kigawa I,Aiba M,Ito A.Intravenous ablation for lower extremity varices to prevent recurrent pulmonary embolism in Klippel-Trenaunay syndrome:report of a case[J].Kyobu Geka,2017,70(7):504-506.
[22] Galyfos G,Kastrisios G,Giannakakis S,et al.Septic superficial thrombophlebitis in Klippel-Trenaunay syndrome[J].Acta Chir Belg,2019,119(2):137-138.DOI:10.1080/00015458.2018.1534394.
[23] Han L,Chen SF,Jiang SP.Gastrointestinal bleeding with Klippel-Trenaunay syndrome:a case report[J].BMC Gastroenterol,2021,21(1):315.DOI:10.1186/s12876-021-01891-6.
[24] Alwalid O,Makamure J,Cheng QG,et al.Radiological aspect of Klippel-Trénaunay syndrome:a case series with review of literature[J].Curr Med Sci,2018,38(5):925-931.DOI:10.1007/s11596-018-1964-4.
[25] 徐涛,张云山,李馨,等.彩色多普勒超声评价Klippel-Trenaunay综合征静脉畸形[J].中国医学影像技术,2017,33(7):1119-1120.DOI:10.13929/j.1003-3289.201610120. Xu T,Zhang YS,Li X,et al.Role of color Doppler ultrasonography in evaluating venous malformations in Klippel-Trenaunay syndrome[J].Chin J Med Imaging Technol,2017,33(7):1119-1120.DOI:10.13929/j.1003-3289.201610120.
[26] Yilmaz OK,Smithson LE.Klippel-Trénaunay syndrome:a case report of a rare vascular disorder identified in a rural Canadian hospital[J].Rural Remote Health,2019,19(4):5348.DOI:10.22605/RRH5348.
[27] 廖贻雨,韦拔,蒋永江,等.1例婴儿Klippel-Trenaunay-Weber综合征报告[J].中国实用医药,2019,14(31):125-126.DOI:10.14163/j.cnki.11-5547/r.2019.31.067. Liao YY,Wei B,Jiang YJ,et al.Klippel-Trenaunay-Weber syndrome:a case report[J].China Pract Med,2019,14(31):125-126.DOI:10.14163/j.cnki.11-5547/r.2019.31.067.
[28] Sung HM,Chung HY,Lee SJ,et al.Clinical experience of the Klippel-Trenaunay syndrome[J].Arch Plast Surg,2015,42(5):552-558.DOI:10.5999/aps.2015.42.5.552.
[29] Lambert G,Teplisky D,Cabezas M,et al.Mechanochemical endovenous ablation of varicose veins in pediatric patients with Klippel-Trénaunay syndrome:feasibility,safety,and initial results[J].J Vasc Interv Radiol,2021,32(1):80-86.DOI:10.1016/j.jvir.2020.08.019.
[30] Hammer J,Seront E,Duez S,et al.Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations:a monocentric prospective phase II study[J].Orphanet J Rare Dis,2018,13(1):191.DOI:10.1186/s13023-018-0934-z.
[31] Yuan F,Bailey CR,Khalil A,et al.Emerging role of sirolimus in the treatment of diffuse venous malformation in a Woman with Klippel-Trenaunay syndrome[J].Cardiovasc Intervent Radiol,2021,44(10):1672-1674.DOI:10.1007/s00270-021-02902-5.
[32] 张坤,薛绛宇,白卫星,等.Klippel-Trenaunay综合征伴脊髓动-静脉瘘、蛛网膜下腔出血1例并文献复习[J].介入放射学杂志,2018,27(2):175-177.DOI:10.3969/j.issn.1008-794X.2018.02.018. Zhang K,Xue JY,Bai WX,et al.Klippel-Trenaunay syndrome complicated by spinal arteriovenous fistula and subarachnoid hemorrhage:one case report with a literature review[J].J Interv Radiol,2018,27(2):175-177.DOI:10.3969/j.issn.1008-794X.2018.02.018.
[33] Ivanitskaya O,Andreeva E,Odegova N.Prenatal diagnosis of Klippel-Trenaunay syndrome:series of four cases and review of the literature[J].Ultrasound,2020,28(2):91-102.DOI:10.1177/1742271X19880327.

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备注/Memo

收稿日期:2021-11-7。
基金项目:山东省自然科学基金面上项目(ZR2020MH144)
通讯作者:刘海燕,Email:haiyan0326@163.com

更新日期/Last Update: 2025-03-28