دورية أكاديمية
A case of brain - lung - thyroid syndrome.
| العنوان: | A case of brain - lung - thyroid syndrome. |
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| عنوان ترانسليتريتد: | 脑-肺-甲状腺综合征1例. |
| المؤلفون: | Liang R; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008. 935617282@qq.com., Ou S; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008., Ding Y; Department of Thyroid Surgery, Xiangya Hospital, Central South University, Changsha 410008, China., Liu C; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008. liuchentao2017@yahoo.com. |
| المصدر: | Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences [Zhong Nan Da Xue Xue Bao Yi Xue Ban] 2022 Mar 28; Vol. 47 (3), pp. 396-400. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English; Chinese |
| بيانات الدورية: | Publisher: |
| أسماء مطبوعة: | Original Publication: Changsha Shi : "Zhong nan da xue xue bao (yi xue ban)" bian ji bu, 2004- |
| مواضيع طبية MeSH: | Congenital Hypothyroidism*/diagnosis , Congenital Hypothyroidism*/genetics , Cough*, Athetosis/genetics ; Chorea ; Humans ; Male ; Respiratory Distress Syndrome, Newborn ; Thyroid Nuclear Factor 1/genetics |
| مستخلص: | Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections. |
| References: | Tremor Other Hyperkinet Mov (N Y). 2017 Oct 26;7:508. (PMID: 29109906) Eur J Med Genet. 2017 May;60(5):257-260. (PMID: 28286255) Dev Med Child Neurol. 2014 Jul;56(7):642-8. (PMID: 24171694) Eur J Pediatr. 2005 Jan;164(1):28-30. (PMID: 15517377) Front Genet. 2018 Aug 22;9:335. (PMID: 30186310) Respir Med. 2017 Aug;129:16-23. (PMID: 28732825) Chest. 2013 Sep;144(3):794-804. (PMID: 23430038) Tremor Other Hyperkinet Mov (N Y). 2015 Jul 14;5:314. (PMID: 26196025) Hum Mol Genet. 2009 Jun 15;18(12):2266-76. (PMID: 19336474) Zhonghua Er Ke Za Zhi. 2019 Jan 2;57(1):5-8. (PMID: 30630224) Zhonghua Er Ke Za Zhi. 2020 Oct 2;58(10):847-849. (PMID: 32987468) |
| معلومات مُعتمدة: | C2019179 the Research Project of Hunan Provincial Health Commission, China |
| فهرسة مساهمة: | Keywords: NKX2-1 gene; brain-lung-thyroid sydrome; hypothyroidism; psychomotor retardation; recurrent cough Local Abstract: [Publisher, Chinese] 脑-肺-甲状腺综合征是一种罕见的常染色体显性遗传性疾病，目前全球共报道100余例，国内鲜有报道。 2018年12月中南大学湘雅医院儿科收治1例3岁10月龄男性脑-肺-甲状腺综合征患儿，该患儿因反复咳嗽3年余就诊。患儿婴儿期开始发现精神运动发育落后，反复咳嗽，甲状腺功能低下。基因检测显示在 NKX2-1 基因上有c.927delC杂合变异(NM-001079668: exon3: c.927delC)，目前该基因位点的变异未见相关文献报道，为新发突变。根据上述临床表现和检查结果，本患儿确诊为脑-肺-甲状腺综合征，以神经系统症状为主，伴呼吸系统损伤和甲状腺功能降低。予口服多巴丝肼缓解震颤，优甲乐缓解甲状腺功能低下，抗感染、雾化、康复训练等对症支持治疗，患儿语言及运动均有进步，甲状腺激素水平正常，但仍有反复呼吸道感染。. |
| المشرفين على المادة: | 0 (Thyroid Nuclear Factor 1) |
| SCR Disease Name: | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress |
| تواريخ الأحداث: | Date Created: 20220511 Date Completed: 20220516 Latest Revision: 20240321 |
| رمز التحديث: | 20240321 |
| مُعرف محوري في PubMed: | PMC10930067 |
| DOI: | 10.11817/j.issn.1672-7347.2022.200998 |
| PMID: | 35545334 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1672-7347 |
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| DOI: | 10.11817/j.issn.1672-7347.2022.200998 |