| 摘要: |
| 目的:探讨儿童克罗恩病(CD)合并特纳综合征(TS)的临床特征及治疗要点。方法:回顾性分析1 例CD 合并TS 患儿的
临床资料,并进行文献复习。结果:患儿,女,CD 病史8 年11 个月,因腹泻复发及口腔溃疡入院,长期接受生物制剂及免疫制剂
治疗。查体示皮肤色泽偏深,多痣,Tanner 分期1 期,双肘外翻,胃肠镜提示CD 中度活动期,染色体核型为46,X,i(X)(q10)确
诊TS。治疗药物调整为乌司奴单抗,家长拒绝评估患儿生长激素水平。结论:对于长期药物治疗的CD 患儿,需系统监测患儿
生长发育,对于性特征延迟、特殊体征患儿应关注TS 等疾病的鉴别。 |
| 关键词: 克罗恩病 特纳综合征 生长发育 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2025.11.012 |
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| 基金项目: |
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| Crohn’s Disease Complicated with Turner’s Syndrome in a Child: a Case Report and Literature Review |
| Sun Rui, Wang Jian, Song Lin, Li Ningning, Xu Xiwei |
| (Beijing Tsinghua Changgung Hospital, Tsinghua University, Beijing
102218, China) |
| Abstract: |
| Objective: To probe into the clinical characteristics and key treatment points of children with Crohn’ s disease (CD)
complicated with Turner’ s syndrome (TS). Methods: Retrospective analysis was performed on clinical data of a child with CD
complicated with TS, and comprehensive literature review was performed. Results: A girl, presented with an 8-year and 11-month
history of CD, was admitted into the hospital due to recurrent diarrhea and oral ulcers and had been on long-term treatment with biologic
agents and immunosuppressive drugs. Physical examination revealed dark skin pigmentation, multiple nevi, Tanner stage 1 pubertal
development, and cubitus valgus. Gastrointestinal endoscopy results indicated a moderate active phase of CD. Diagnosis of TS was
confirmed by karyotyping analysis, which showed a 46,X,i(X)(q10) chromosomal pattern. The treatment regimen was adjusted to
ustekinumab, and an assessment of growth hormone levels was recommended, but the parents of the child declined. Conclusion: For
pediatric CD patients undergoing long-term pharmacotherapy, systematic monitoring of growth and development is imperative. Particular
attention should be paid to the differential diagnosis of conditions such as TS in children with delayed sexual characteristics and
distinctive physical manifestations. |
| Key words: Crohn’s disease Turner’s syndrome growth and development |
