中国实用儿科杂志

中国实用儿科杂志 ›› 2026, Vol. 41 ›› Issue (1): 78-83.DOI: 10.19538/j.ek2026010615

• 疑难病例大查房 • 上一篇    下一篇

脑—肺—甲状腺综合征诊疗实践与多学科管理

  

  1. 浙江大学医学院附属儿童医院呼吸内科  儿童少年健康与疾病国家临床医学研究中心，浙江  杭州  310052
  • 出版日期:2026-01-06 发布日期:2026-03-02
  • 通讯作者: 王颖硕，电子信箱：wangyingshuo@zju.edu.cn
  • 基金资助:
    浙江省“尖兵计划”（2023C03009）

Starting from respiratory distress：diagnostic practice and multidisciplinary management insights in brain-lung-thyroid syndrome

  1. Department of Pulmonology，The Children’s Hospital，Zhejiang University School of Medicine，National Clinical Research Center for Children and Adolescents’ Health and Diseases，Hangzhou  310052，China
  • Online:2026-01-06 Published:2026-03-02

摘要： 脑—肺—甲状腺综合征（brain-lung-thyroid syndrome，BLTS），是一种罕见的常染色体显性遗传疾病。该综合征典型表现为神经系统障碍、间质性肺病及甲状腺功能异常。该文报道了以呼吸窘迫为核心表现的BLTS的诊疗实践与多学科管理启示。文章通过完整呈现1例患儿的诊疗过程，梳理了该病的临床特点与挑战。对于常规治疗反应不佳的足月儿呼吸窘迫或儿童间质性肺病（childhood interstital lung diseases，chILD），尤其当合并甲状腺功能异常和（或）神经系统症状时，需高度警惕BLTS可能。文章重点探讨了基于NKX2-1基因突变的发病机制、临床表现的异质性（涉及肺、甲状腺、脑多系统）以及多学科协作（multidisciplinary teamwork MDT）在早期识别、精准诊断和个体化长期管理中的关键作用。

关键词:

Abstract: Brain-Lung-Thyroid syndrome（BLTS） is an infrequent autosomal dominant disorder that manifests as neurological impairment，interstitial lung disease，and thyroid dysfunction. This article presents a comprehensive report on the diagnosis and treatment practice，along with multidisciplinary management insights，of BLTS cases primarily manifested as respiratory distress. Through a detailed account of the entire diagnosis and treatment process of a pediatric case，the clinical characteristics and challenges associated with this disease are summarized. In the case of term infants presenting with respiratory distress or children diagnosed with childhood interstitial lung disease（chILD） who exhibit an inadequate response to conventional treatment，particularly when concurrent with thyroid dysfunction and/or neurological manifestations，BLTS should be strongly suspected. The article centers on the pathogenesis based on NKX2-1 gene mutations，the heterogeneity of clinical presentations encompassing multiple systems（including the lungs，thyroid gland，and brain），and the indispensable role of multidisciplinary teamwork（MDT） in early detection，precise diagnosis，and individualized long-term management. This article offers essential references for clinicians in the early identification and management of this rare disorder.

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