RPL3L基因变异相关心内膜弹力纤维增生症1例

A Case of Endocardial Fibroelastosis Associated with RPL3L Gene Mutation

摘要: 1例28天新生儿，因“哭闹、拒乳半天，皮肤青灰近30分钟”入院。入院后诊断为新生儿肺炎，给予抗感染、氧疗等治疗，患儿病情一度好转。入院第3天突然出现血氧饱和度下降，行心脏彩超检查后，不排除存在心内膜弹力纤维增生症(Endocardial Fibroelastosis, EFE)。给予强心，利尿，呼吸机辅助通气等对症处理，最终病情得到控制，后与家长沟通完善基因测序发现受检者RPL3L基因c.680G > T (p.G1y227Val) (父源)及c.550C > T (p.G1n184*) (母源)复合杂合变异，目前给予强心等对症治疗，随访生长发育明显落后于其双胞胎兄弟。

Abstract: A 28-day-old newborn was admitted to the hospital due to “crying, refusing to breastfeed for half a day, and cyanosis for nearly 30 minutes”. After admission, the diagnosis was neonatal pneumonia, and the infant received anti-infection and oxygen therapy, which initially improved the condition. On the third day of admission, the infant suddenly showed a decrease in blood oxygen saturation. A cardiac ultrasound examination was performed, and endocardial fibroelastosis (EFE) was suspected. The infant received cardiac support, diuretics, and mechanical ventilation as symptomatic treatment, and the condition was eventually brought under control. Subsequent communication with the parents revealed a compound heterozygous mutation in the RPL3L gene (c.680G > T (p.G1y227Val) (paternal) and c.550C > T (p.G1n184*) (maternal). Currently, the infant is receiving cardiac support and other symptomatic treatments, and follow-up shows significantly lagging growth and development compared to its twin brother.