High-resolution computed tomography findings of thyroid transcription factor 1 deficiency (NKX2-1 mutations).
Benjamin D LeMoineLorna P BrowneDeborah R LiptzinRobin R DeterdingCsaba GalambosJason P WeinmanPublished in: Pediatric radiology (2019)
HRCT findings of TTF-1 deficiency are heterogeneous and evolve over time. There is significant overlap between the HRCT findings of TTF-1 deficiency, other surfactant dysfunction mutations, and pulmonary interstitial glycogenosis. TTF-1 deficiency should be considered in term infants presenting with interstitial lung disease, especially if hypotonia or hypothyroidism is present.
Keyphrases
- interstitial lung disease
- replacement therapy
- computed tomography
- high resolution
- transcription factor
- systemic sclerosis
- rheumatoid arthritis
- magnetic resonance imaging
- pulmonary hypertension
- idiopathic pulmonary fibrosis
- mass spectrometry
- oxidative stress
- positron emission tomography
- smoking cessation
- tandem mass spectrometry
- image quality