中国实用儿科杂志2026，Vol.41Issue(1)：78-83,6.DOI:10.19538/j.ek2026010615
脑-肺-甲状腺综合征诊疗实践与多学科管理
Starting from respiratory distress:diagnostic practice and multidisciplinary management insights in brain-lungthyroid syndrome
摘要
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.关键词
脑-肺-甲状腺综合征/NKX2-1基因/儿童间质性肺病/多学科管理Key words
brain-lung-thyroid syndrome/NKX2-1gene/childhood interstitial lung disease/multidisciplinary teamwork分类
医药卫生引用本文复制引用
成云改,王颖硕..脑-肺-甲状腺综合征诊疗实践与多学科管理[J].中国实用儿科杂志,2026,41(1):78-83,6.基金项目
浙江省"尖兵计划"(2023C03009) （2023C03009）
