儿童主静脉发育不良严重程度的研究

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主静脉发育不良（DMV）是由描述这种病理的作者所知道的，即Klippel-Trenaunay综合征。在作者的经典描述中，Klippel-Trenaunay综合征的临床表现以三联征为特征：血管斑，非典型静脉曲张，软组织和骨骼肥大，患肢体积和长度增加。需要强调的是，这些症状的严重程度主要取决于病变的类型（胚胎或胎儿）和病变的严重程度。Klippel-Trenaunay综合征几乎总是散发性的，这意味着它在没有家族疾病史的人中发展。研究表明，这种情况是基因突变的结果，不是遗传的。这些被称为体细胞突变的基因变化，在出生前的早期发育阶段，在一个细胞中随机发生。Klippel-Trenaunay综合征可由PIK3CA基因突变引起。本文报道临床观察— 一周岁儿童的病程，主静脉发育不良，症状极为严重。在目前的临床观察中，在以慢性疾病为主的背景下，有必要注意该患者的治疗难点。这些病人的治疗应在多学科医院进行，包括血管外科专家、整形外科医生和重症监护医生。以所述病例为例，说明了诊断策略和手术治疗。对大静脉发育不良患儿进行及时的病理手术和保守治疗，可以提高患儿的生活质量和社会适应能力。

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作者简介

Mikhail Azarov

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

Email: Azarov_89@mail.ru

Postgraduate Student, Department of Surgical Diseases of Childhood

俄罗斯联邦, Saint Petersburg

Dmitry Kupatadze

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

编辑信件的主要联系方式.
Email: ddkupatadze@gmail.com

MD, PhD, Dr. Sci. (Med.), Professor, Head, Department of Surgical Diseases of Childhood

俄罗斯联邦, Saint Petersburg

Viktor Nabokov

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

Email: vn59@mail.ru

MD, PhD, Associate Professor, Department of Surgical Diseases of Childhood

俄罗斯联邦, Saint Petersburg

Yuri Makhin

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

Email: mahin@inbox.ru

MD, PhD, Associate Professor, Department of Cardiovascular Surgery

俄罗斯联邦, Saint Petersburg

Levter Kolbaia

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

Email: levterletter@mail.ru

Pediatric Surgeon, Laboratory Assistant, Department of Cardiovascular Surgery

俄罗斯联邦, Saint Petersburg

Igor Dyug

St. Petersburg State Pediatric Medical University of the Ministry of Healthcare of the Russian Federation

Email: vdyug72@mail.ru

Pediatric Surgeon, Microsurgical Department

俄罗斯联邦, Saint Petersburg

参考

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2. 图. 1. K.V.患者，一岁：诊断为主静脉发育不良，胚胎型，极度严重：a—外观；b—顺行静脉造影术；c—腘区皮下组织胎儿静脉（手术一个阶段）

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3. 图. 2. K.V.患者， 两岁：诊断为主静脉发育不良，胚胎型，极度严重：a,b—手术后外观；c—带假体的外观

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版权所有 © Azarov M., Kupatadze D., Nabokov V., Makhin Y., Kolbaia L., Dyug I., 2021

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