Open AccessCombined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia
Author(s) -
Rui Gu,
Guangyong Ye,
Yimin Zhou,
Jian Zhou
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000019650
Subject(s) - medicine , respiratory distress , interstitial lung disease , compound heterozygosity , hypoxemia , pediatrics , gastroenterology , lung , anesthesia , mutation , gene , genetics , biology
Rationale: Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome. Patient concerns: Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability. Diagnosis: Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes. Interventions: The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures. Outcomes: The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died. Lessons: Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.