Jon Cindy, Nolan Paul K, Ekong Mfon, Mosquera Ricardo A, Stark James M
Department of Pediatrics, University of Texas Health Science Center, Houston, Texas.
Pediatr Pulmonol. 2014 Mar;49(3):E66-8. doi: 10.1002/ppul.22825. Epub 2013 Jun 17.
We present an infant who was born premature at 23 weeks gestation with bronchopulmonary dysplasia and a SFTPC gene mutation, p.R167Q, who had a complicated neonatal course requiring 4 months of mechanical ventilation. Over time, his clinical course has improved, and he only requires oxygen by nasal cannula and low dose hydroxychloroquine, suggesting that p.R167Q mutation contributed to his clinical course and may manifest with a variable disease pattern making long-term prognostication difficult in the immediate newborn period.
我们报告了一名孕23周早产的婴儿，患有支气管肺发育不良和SFTPC基因突变（p.R167Q），其新生儿期病程复杂，需要机械通气4个月。随着时间推移，他的临床病程有所改善，目前仅需通过鼻导管吸氧和低剂量羟氯喹，这表明p.R167Q突变影响了他的临床病程，且可能表现出可变的疾病模式，使得在新生儿早期难以进行长期预后评估。
