丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿

许家宁; 郭雅欣; 王珊珊; 殷磊; 朱甲明; 程文; 姜红堃; 高兴华; 徐学刚

doi:10.12376/j.issn.2097-0501.2023.02.007

丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿

doi: 10.12376/j.issn.2097-0501.2023.02.007

1.
中国医科大学附属第一医院皮肤科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001
2.
中国医科大学附属第一医院放射科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001
3.
中国医科大学附属第一医院泌尿外科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001
4.
中国医科大学附属第一医院胃肠肿瘤外科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001
5.
中国医科大学附属第一医院神经外科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001
6.
中国医科大学附属第一医院儿科，国家卫生健康委员会免疫皮肤病学重点实验室，免疫皮肤病学教育部重点实验室，免疫性皮肤病诊疗技术国家地方联合工程研究中心，沈阳 110001

基金项目:

上海交通大学遗传发育与精神神经疾病教育部重点实验室开放课题 2020GDN06

详细信息

通信作者:
徐学刚，E-mail: xuxuegang2749290@163.com

中图分类号: R739.4
计量
- 文章访问数: 17
- HTML全文浏览量: 13
- PDF下载量: 4
- 被引次数: 0
出版历程
- 收稿日期: 2023-01-15
- 录用日期: 2023-02-18
- 网络出版日期: 2023-05-05

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System

1.
Department of Dermatology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
2.
Department of Radiology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
3.
Department of Urology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
4.
Department of Gastrointestinal Oncology, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
5.
Department of Neurosurgery, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China
6.
Department of Pediatrics, NHC Key Laboratory of Immunodermatology, Key Laboratory of Immunodermatology, Ministry of Education, National and Local Joint Engineering Research Center of Immunological Theranostics, the First Hospital of China Medical University, Shenyang 110001, China

Funding:

Open Project of Key Laboratory of Genetic Development and Psychiatric Diseases of Ministry of Education, Shanghai Jiao Tong University 2020GDN06

More Information

Corresponding author: XU Xuegang, E-mail: xuxuegang2749290@163.com

摘要

摘要: 一例3岁男性患儿，确诊Ⅰ型神经纤维瘤病(NF1)两年。患者腹膜后、腰尾椎旁、腰骶部椎管、椎间孔等处多发神经纤维瘤。因腹膜后肿物压迫，导致患儿患有肾盂积水、输尿管扩张、神经源性膀胱等泌尿系统并发症，排尿功能受到严重影响，曾多次进行手术治疗。目前患者使用丝裂原激活细胞外信号调控激酶(MEK)抑制剂司美替尼靶向治疗，已有自主排尿，一般状态较用药前好转。该病例的诊治体现了多学科协作在罕见病诊疗过程中具有重要意义。
- Ⅰ型神经纤维瘤病 /
- 丛状神经纤维瘤 /
- 肾盂积水 /
- 司美替尼
Abstract: A 3-year-old male patient was diagnosed with neurofibromatosis type 1(NF1) for two years. The patient has multiple neurofibromas in retroperitoneum, lumbococcygeal paravertebral, lumbosacral spinal canal, and foramina. Due to retroperitoneal mass compression, the child suffered from urological complications such as hydronephrosis, ureterdilation, neurogenic bladder, etc., which seriously affected the urination function and resulted in multiple surgical treatments. Currently, the patient has been treated with mitogen activates extracelluar signal-regulated kinases(MEK) inhibitor selumetinib targeted therapy, and has voluntarily urinated, and his general state is better than before medication. The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.
- neurofibromatosis type 1 /
- plexiform neurofibroma /
- hydronephrosis /
- selumetinib
注释:

作者贡献：许家宁与郭雅欣贡献相同。文章撰写与研究设计：许家宁、郭雅欣、徐学刚；数据收集与分析：徐学刚、郭雅欣；文章审阅与修改：王珊珊、殷磊、朱甲明、程文、姜红堃、高兴华、徐学刚。

利益冲突：所有作者均声明不存在利益冲突。

HTML全文

图 1 患儿下肢皮肤表现

箭头示大小不一褐色或棕色斑片

Figure 1. Skin manifestation of the lower limb of the child

下载: 全尺寸图片幻灯片

图 2 患儿2021年9月腰骶椎MRI

箭头示腰骶椎前方及两侧，盆腔及膀胱周围多发团块状占位性病变

Figure 2. MRI of the lumbosacral vertebrae of the child in September 2021

下载: 全尺寸图片幻灯片

参考文献(11)

[1]	Kresak JL, Walsh M. A review of NF1, NF2, and Schwannomatosis[J]. J Pediatr Genet, 2016, 5(2): 98-104. doi: 10.1055/s-0036-1579766
[2]	Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis type 1[J]. Nat Rev Dis Primers, 2017, 3: 17004. doi: 10.1038/nrdp.2017.4
[3]	郭雅欣, 王鹤晓, 齐瑞群, 等. Ⅰ型神经纤维瘤病治疗新时代[J]. 中国皮肤性病学杂志, 2022. doi: 10.13735/j.cjdv.1001-7089.202207017.
[4]	Wilson BN, John AM, Handler MZ, et al. Neurofibromatosis type 1: newdevelopments in genetics and treatment[J]. J Am Acad Dermatol, 2021, 84(6): 1667-1676. doi: 10.1016/j.jaad.2020.07.105
[5]	Bergqvist C, Servy A, Valeyrie-Allanore L, et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966[J]. Orphanet J Rare Dis, 2020, 15(1): 37. doi: 10.1186/s13023-020-1310-3
[6]	Stewart DR, Korf BR, Nathanson KL, et al. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med, 2018, 20(7): 671-682. doi: 10.1038/gim.2018.28
[7]	Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1[J]. J Med Genet, 2007, 44(2): 81-88.
[8]	王智超, 李青峰. Ⅰ型神经纤维瘤病临床诊疗专家共识(2021版)[J]. 中国修复重建外科杂志, 2021, 35(11): 1384-1395.
[9]	Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy[J]. Am J Med Genet, 1996, 66(1): 7-10. doi: 10.1002/(SICI)1096-8628(19961202)66:1<7::AID-AJMG2>3.0.CO;2-R
[10]	Miller DT, Freedenberg D, Schorry E, et al. Health supervision for children with neurofibromatosis type 1[J]. Pediatrics, 2019, 143(5): e20190660. doi: 10.1542/peds.2019-0660
[11]	Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-relatedplexiform neurofibromas[J]. N Engl J Med, 2016, 375(26): 2550-2560. doi: 10.1056/NEJMoa1605943