• Ya-Xin Tan, Shu-Jun Li, Hai-Tao Li, Xiao-Juan Yin, Bo Cheng, Jing-Li Guo, Na Li, Cheng-Zhong Zheng, and Hong-Yu Chang.
• Department of Pediatrics, the People's Liberation Army Rocket Force Characteristic Medical Center, Beijing, China.
• Medicine (Baltimore). 2021 Dec 17; 100 (50): e28201e28201.

RationaleRespiratory distress syndrome (RDS) refers to the symptoms of progressive dyspnea and respiratory failure in newborns shortly after birth. The clinical and genetic characteristics of patients with neonatal RDS have not been extensively reported.Patient ConcernsA infant was in critical condition with repeated paroxysmal blood oxygen decline. Oxygen inhalation and noninvasive ventilator-assisted breathing relief were not effective. The etiology was unclear, and there was no family history of lung disease. Surface-active substance replacement therapy and positive pressure-assisted ventilation support were ineffective.DiagnosisThe infant was clinically diagnosed with RDS. Genetic tests revealed a heterozygous missense mutation in the c.168 surfactant protein C (SFTPC) gene.InterventionsTracheal intubation was performed with invasive ventilator-assisted breathing, pulmonary surfactant was administered. Supportive treatment for liver protection and administration of a cardiotonic diuretic, vasodilator, human immunoglobulin (intravenous infusion), fresh frozen plasma, and suspended red blood cells were performed.OutcomesThe infant showed poor responses to respiratory and circulatory support, antibiotic treatment, and other treatment methods. The patient was discharged from hospital against the advice of us, cut off from us. The long-term prognosis of the patient after discharge remains unknown.LessonsSFTPC gene mutations may be an important risk factor for the development of common lung diseases. Because of the important roles of surfactant functions and metabolism, mutations in these genes can affect the production and function of pulmonary surfactant, leading to severe lung disease in term newborns.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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