Thyroid transcription factor 1 deficiency
Thyroid transcription factor 1 deficiency is a situation characterized by mutations in the gene encoding thyroid transcription factor, NKX2-1.
It can result in neurological, thyroid, and pulmonary dysfunction (including neonatal respiratory distress). Children can have a range of mild-to-severe respiratory symptoms and can occasionally die of respiratory failure 1.
Lung histopathology can demonstrate evidence of disrupted surfactant homeostasis in most cases and with evidence of disrupted lung growth in some cases.
Ground-glass opacification is considered the most common imaging feature with consolidation also being prevalent finding. Lung architectural distortion is considered less common 2.
- 1. Galambos C, Levy H, Cannon CL, Vargas SO, Reid LM, Cleveland R, Lindeman R, deMello DE, Wert SE, Whitsett JA, Perez-Atayde AR, Kozakewich H. Pulmonary pathology in thyroid transcription factor-1 deficiency syndrome. (2010) American journal of respiratory and critical care medicine. 182 (4): 549-54. doi:10.1164/rccm.201002-0167CR - Pubmed
- 2. LeMoine BD, Browne LP, Liptzin DR, Deterding RR, Galambos C, Weinman JP. High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations). (2019) Pediatric radiology. 49 (7): 869-875. doi:10.1007/s00247-019-04388-3 - Pubmed
- 3. Hamvas A, Deterding RR, Wert SE, White FV, Dishop MK, Alfano DN, Halbower AC, Planer B, Stephan MJ, Uchida DA, Williames LD, Rosenfeld JA, Lebel RR, Young LR, Cole FS, Nogee LM. Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1. (2013) Chest. 144 (3): 794-804. doi:10.1378/chest.12-2502 - Pubmed