Abstract:

Objective To report two cases with neonatal respiratory distress syndrome(NRDS) carrying surfactant protein C gene(SFTPC) mutations.Methods The clinical, radiological and genetic testing data of the two cases were analyzed and related literatures were reviewed.Results The two cases were a full-term(38+3 weeks) newborn and a premature(35+2 weeks) neonate respectively. Both newborns developed respiratory distress shortly after birth requiring surfactant replacement and positive-pressure assisted ventilation. Imaging findings were consistent with NRDS for each case. Various etiology examinations were negative. Family history of pulmonary diseases was negative for each case. A heterozygous missense SP-C mutation SFTPC: c.68G >G/A,p.R23Q was identified in the full-term newborn which had not been reported yet. A heterozygous missense SP-C mutation SFTPC: c.115G>G/T,p.V39L was detected in another case which had been reported to be a cause of childhood interstitial lung disease. Seven RDS cases with SFTPC mutations and detailed clinical information were reported in six articles. Altogether with the two cases in this study, all nine cases presented respiratory distress at birth and required surfactant administration and mechanical ventilation with a main radiological feature of bilateral diffuse haziness and/or interstitial changes. As for the outcomes, two cases died, one survived with interstitial lung disease, one had bronchopulmonary dysplasia, four stayed healthy and one was lost in the follow-up.Conclusion Chinese patients with NRDS carrying SP-C gene mutations may be disease-causing. Identification of these gene mutations will be beneficial to early intervention, prognosis evaluation and genetic counseling.