Abstract:

Objective: To report the first case of hydroxychloroquine sulfate treatment for surfactant protein C gene (SFTPC) mutation caused infantile interstitial lung disease. Methods: The clinical data,diagnostic process and curative effects of hydroxychloroquine sulfate in the treatment of surfactant protein C gene mutation with the infantile interstitial lung disease and related literatures were reviewed. Results: A 2-months-old female baby, presented with coughing and shortness of breath for 2 months, was admitted to hospital on September 9th, 2015.The case developed respiratory distress in neonatal period and required supplemental oxygen persistently.Imaging showed that there were lung shadows,various etiology examinations were negative, conventional anti infective therapy was ineffective,family history of pulmonary diseases was negative.A heterozygous missense SP-C mutation SFTPC （exon4）:c.T337C，p.Y113H was identified which had not been reported yet. The patient was treated with hydroxychloroquine sulfate from 13 months of age.After 6 months treatment,respiratory distress,growth and chest CT were improved significantly.The retrieval of interstitial lung disease with mutations in the SFTPC gene was made in PubMed,Web of Science,Chinese CNKI,VIP database and Wanfang database.From the establishments of these databases to December 2016,a total of 12 articles were retrieved, all of them were foreign literatures.Including 1 case of this article, a total of 51 patients with SFTPC mutations which were treated by hydroxychloroquine sulfate were reported and followed up for 0.3-15.8 years.There were good effects in all 12 patients(100%),who were treated with hydroxychloroquine sulfate only,and without adverse drug reactions or no mentions.39 cases were treated with systemic corticosteroids combined with hydroxychloroquine sulfate.Among them, 33 cases were improved(84.6%), 2 cases(5.1%) not improved,4 cases(10.3%) deteriorated (1 case died). Conclusion: Early detections and early diagnoses are very important for these SFTPC gene mutations in infants with interstitial lung diseases.Early treatment of hydroxychloroquine sulfate will be beneficial to improve the growth and development,clinical symptoms and signs, and reduce the incidence of end-stage lung.