DOI: https://doi.org/10.22141/2224-0551.13.5.2018.141568

Modern concept of the brain-lung-thyroid syndrome and its pulmonary manifestations

O.L. Logvinova, M.A. Gonchar

Abstract


This article is a review of the modern world literature on the brain-lung-thyroid syndrome in children. The authors focused on the etiology and features of ontogenesis of the involved organs in the presence of NKX2-1 gene mutation. Particular attention is paid to the clinical manifestations and early diagnosis of this syndrome in newborns and young children. Current options for the treatment of the brain-lung-thyroid syndrome are presented.

Keywords


children; newborns; NKX2-1; TTF-1; interstitial lung diseases; respiratory distress syndrome; brain-lung-thyroid syndrome; review

References


Das A, Acharya S, Gottipati KR, et al. Thyroid transcription factor-1 (TTF-1) gene: identification of ZBP-89, Sp1, and TTF-1 sites in the promoter and regulation by TNF-α in lung epithelial cells. Am J Physiol Lung Cell Mol Physiol. 2011 Oct;301(4):L427-40. doi: 10.1152/ajplung.00090.2011.

Carré A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162.

Boggaram V. Thyroid transcription factor-1 (TTF-1/Nkx2.1/TITF1) gene regulation in the lung. Clin Sci (Lond). 2009 Jan;116(1):27-35. doi: 10.1042/CS20080068.

Teissier R, Guillot L, Carre A, et al. Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome. Horm Res Paediatr. 2012;77(3):146-51. doi: 10.1159/000337214.

Ferrara JM, Adam OR, Kirwin SM, et al. Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation. J Child Neurol. 2012 Jan;27(1):68-73. doi: 10.1177/0883073811413584.

Barnett CP, Mencel JJ, Gecz J, et al. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. Am J Med Genet A. 2012 Dec;158A(12):3168-73. doi: 10.1002/ajmg.a.35456.

Shetty VB, Kiraly-Borri C, Lamont P, Bikker H, Choong CS. NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients. J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):373-8. doi: 10.1515/jpem-2013-0109.

Belyashova MA, Ovsyannikov DYu, Kazyukova TV, Samsonovich IR, Koltunov IE, Petryaykina EE. The brain-lung-thyroid syndrome. Pediatria. 2015;94(1):86-92.

Peall KJ, Lumsden D, Kneen R, et al. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol. 2014 Jul;56(7):642-8. doi: 10.1111/dmcn.12323.

Williamson S, Kirkpatrick M, Greene S, Goudie D. Novel Mutation of NKX2-1 Affecting 2 Generations With Hypothyroidism and Choreoathetosis: Part of the Spectrum of Brain-Thyroid-Lung Syndrome. J Child Neurol. 2014 May;29(5):666-9. doi: 10.1177/0883073813518243.

Inzelberg R, Weinberger M, Gak E. Benign hereditary chorea: an update. Parkinsonism Relat Disord. 2011 Jun;17(5):301-7. doi: 10.1016/j.parkreldis.2011.01.002.

Kurland G, Deterding RR, Hagood JS, et al. An Official American Thoracic Society Clinical Practice Guideline: Classification, Evaluation, and Management of Сhildhood Interstitial Lung Disease in Infancy. Am J Respir Crit Care Med. 2013 Aug 1;188(3):376-94. doi: 10.1164/rccm.201305-0923ST.

Hamvas A, Deterding RR, Wert SE, et al. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. Chest. 2013 Sep;144(3):794-804. doi: 10.1378/chest.12-2502.

Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1–Related Disorders—Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016 Feb;73(2):237-8. doi: 10.1001/jamaneurol.2015.2976.

Lai SC, Phelps CA, Short AM, Dutta SM, Mu D. Thyroid transcription factor 1 enhances cellular statin sensitivity via perturbing cholesterol metabolism. Oncogene. 2018 Jun;37(24):3290-3300. doi: 10.1038/s41388-018-0174-7.

Yamaguchi T, Hosono Y, Yanagisawa K, Takahashi T. NKX2-1/TTF-1: An Enigmatic Oncogene that Functions as a Double-Edged Sword for Cancer Cell Survival and Progression. Cancer Cell. 2013 Jun 10;23(6):718-23. doi: 10.1016/j.ccr.2013.04.002.

Gras D, Jonard L, Roze E, et al. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505.




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