부산대학교 도서관

For newborns suspected having childhood interstitial lung disease (ChILD), the sequencing of genes encoding surfactant proteins is recommended. However, it is still difficult to interpret the clinical significance of those variants found. We report a full-term born female infant who presented with respiratory distress and failure to thrive at 2 months of age and both imaging and lung biopsy were consistent with ChILD. Her genetic test was initially reported as a variant of unknown significance in surfactant protein C (c.202G > T, p.V68F), which was modified later as likely pathogenic after reviewing a report of the same variant as causing ChILD. The infant was placed on noninvasive ventilation and treated with IV Methylprednisolone, Hydroxychloroquine, and Azithromycin but did not show significant clinical and radiological improvement underwent tracheostomy and is awaiting lung transplantation at 8 months of age. The challenges interpreting the genetic results are discussed.
Author(s): Hyunbin Park [sup.1], Aneela Bidiwala [sup.1], Laura A. Conrad [sup.1], Nasr Aborawi [sup.1], Michelle Ewart [sup.2], Maureen Josephson [sup.3], Lawrence M. Nogee [sup.4], Raanan Arens [sup.1] Author Affiliations: (1) [...]