1型神经纤维瘤病患儿的外科治疗：病例系列
- 作者: Sukhodolskaya O.V.1, Dorofeeva M.Y.2, Bochenkov S.V.2, Pivovarova A.M.2, Zabrodina A.R.2, Jivanshiryan G.V.2, Tarasova D.S.1, Ayrapetyan M.I.1,2, Morozov D.A.1,2
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隶属关系:
- Sechenov First Moscow State Medical University
- Pirogov Russian National Research Medical University
- 期: 卷 15, 编号 2 (2025)
- 页面: 181-192
- 栏目: Original Study Articles
- URL: https://journals.rcsi.science/2219-4061/article/view/313000
- DOI: https://doi.org/10.17816/psaic1844
- EDN: https://elibrary.ru/TSLHBO
- ID: 313000
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论证。在决定人体内肿瘤发生倾向的遗传性疾病中，1型神经纤维瘤病处于主导地位。由于该病具有临床症状异质性的特点，患者常被不同专科医生接诊，从而客观上导致症状被低估和诊断延迟。
目的。鉴于该疾病的罕见性，以及目前俄罗斯尚缺乏统一的1型神经纤维瘤病患者管理方案，本文旨在对该病患者的诊断与外科治疗情况进行比较分析。
方法。回顾性分析在Research Clinical Institute of Pediatrics and Pediatric Surgery named after acad. Y.E. Veltishchev接受1型神经纤维瘤病相关外科治疗的20例患儿的临床资料。
结果。共分析20份病历资料（9例男童，11例女童）。诊断时年龄的中位数为7岁（范围1–17岁）。大多数患者（n = 15）的1型神经纤维瘤病表现累及头颈部区域。指出目前尚缺乏对疑似1型神经纤维瘤病患儿的统一检查方案：19例患者接受了病变区域的磁共振成像检查，而仅约三分之一患者同时接受了脑部磁共振成像和腹部器官超声检查。共实施了36例手术。20例患者因发现占位性病变而被建议进行手术治疗。3例神经纤维瘤患者的初始病理诊断出现误判，导致诊断延迟并采取了不恰当的治疗策略。在26例肿瘤完全切除的患者中，有14例出现复发，需再次手术治疗（n = 9）。文中还报道了一例罕见的肠道神经节神经纤维瘤病病例。
结论。该病临床表现多样且较为罕见，加之小儿外科医生对此缺乏足够警惕，常导致诊断滞后及治疗不当。患儿常由不同专科医生分别进行检查与管理，缺乏系统化策略，外科治疗亦常未充分考虑疾病的病理基础。重要的是建立此类患者的临床登记系统，并组建多学科医生团队，仅通过专家会诊决定1型神经纤维瘤病患儿的治疗策略。
作者简介
Olga V. Sukhodolskaya
Sechenov First Moscow State Medical University
编辑信件的主要联系方式.
Email: betti_olga99@mail.ru
ORCID iD: 0000-0002-8868-4763
SPIN 代码: 2881-3415
俄罗斯联邦, Moscow
Marina Yu. Dorofeeva
Pirogov Russian National Research Medical University
Email: mdorofeeva@inbox.ru
ORCID iD: 0000-0001-7879-315X
SPIN 代码: 5156-1745
MD, Cand. Sci. (Medicine)
俄罗斯联邦, MoscowSergey V. Bochenkov
Pirogov Russian National Research Medical University
Email: boch@pedklin.ru
ORCID iD: 0000-0002-7291-5459
SPIN 代码: 6584-4201
俄罗斯联邦, Moscow
Alexandra M. Pivovarova
Pirogov Russian National Research Medical University
Email: ampivovarova@gmail.com
ORCID iD: 0000-0002-7520-1072
SPIN 代码: 2754-6879
MD, Cand. Sci. (Medicine)
俄罗斯联邦, MoscowAnna R. Zabrodina
Pirogov Russian National Research Medical University
Email: zabrodina@pedklin.ru
ORCID iD: 0000-0003-4816-9369
SPIN 代码: 8382-4911
俄罗斯联邦, Moscow
Goar V. Jivanshiryan
Pirogov Russian National Research Medical University
Email: Dzhivanshiryan.g@pedklin.ru
ORCID iD: 0000-0002-1105-9679
俄罗斯联邦, Moscow
Daria S. Tarasova
Sechenov First Moscow State Medical University
Email: dtarasowa@yandex.ru
ORCID iD: 0000-0003-2387-8740
SPIN 代码: 2175-3280
MD, Cand. Sci. (Medicine)
俄罗斯联邦, MoscowMaxim I. Ayrapetyan
Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical University
Email: Drairmaxim@gmail.com
ORCID iD: 0000-0002-0348-929X
SPIN 代码: 3683-7312
MD, Cand. Sci. (Medicine), Associate Professor
俄罗斯联邦, Moscow; MoscowDmitry A. Morozov
Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical University
Email: damorozov@list.ru
ORCID iD: 0000-0002-1940-1395
SPIN 代码: 8779-8960
MD, Dr. Sci. (Medicine), Professor
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