Abstract
Key Clinical MessagePatients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain–lung–thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis.
Highlights
The NKX2-1 is a gene that encodes the thyroid transcription factor 1, a member of the homeodomain-containing family of transcription factors
NKX2-1 is expressed early in fetal life in the thyroid bud and prosencephalon, and later in the lung epithelium [1, 2] NKX2-1 is critical for the expression of surfactant proteins A, B, and C, as well as ABCA3 [3,4,5], a lipid transporter in pulmonary surfactant biogenesis
In the family we describe in this report, we have observed variation in the organ systems involved, and a variable degree of lung disease, this is consistent with the findings of Hanvas et al in a case series of 21 patients with different NKX2-1 mutations and variable degree of lung disease recently reported [10]
Summary
The NKX2-1 is a gene that encodes the thyroid transcription factor 1, a member of the homeodomain-containing family of transcription factors. The mother of the two siblings described in this report has congenital hypothyroidism (Fig. 1, II-2) She required extracorporeal membrane oxygenation (ECMO) therapy in the neonatal period for respiratory failure due to meconium aspiration, she was discharged home without supplemental oxygen and has not had any significant respiratory illnesses since . She recovered from this acute illness and was discharged home with supplemental oxygen at 2.5 L/min via nasal cannula and nasogastric tube feeding due to oral aversion She was admitted a third time at age of 20 months with respiratory syncytial virus (RSV) bronchiolitis and severe respiratory distress requiring endotracheal intubation and high frequency mechanical ventilation. The younger sister (Fig. 1, III-2) was born to the same parents at term without complications She was diagnosed with congenital hypothyroidism by newborn screening and was started on thyroid hormone replacement therapy soon after birth. Upon follow-up in the pulmonary clinic at 8 months of age, she was started on maintenance prednisolone therapy of 2 mg/kg/day, which was weaned off slowly without development of respiratory symptoms
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