Department of Neonatology, St Marien Hospital, Bonn, Germany.
J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131.
SFTPC (surfactant protein C) mutations resulting in SP-C deficiency causing ongoing respiratory failure in the neonatal period represent a rare entity. We report a full-term female infant who developed respiratory distress and respiratory failure shortly after birth. From the first day of life the infant was mechanically ventilated. Application of exogenous surfactant or cortisone did not lead to any clinical improvement. Genetic analysis identified a novel SFTPC mutation as the cause of her lung disease. The patient was diagnosed as heterozygous for a p.Cys121Gly/C121G substitution encoded by exon 4, which could not be detected in both parents. Experimental therapy with hydroxychloroquine resulted in a significant clinical improvement within 2 weeks time. Mechanical ventilation was no longer needed, and the patient was discharged without additional oxygen demand. The patient remained well under therapy till the age of 6 months. After that time, the therapy was successfully discontinued.
导致新生儿期持续性呼吸衰竭的 SFTPC（表面活性蛋白 C）突变导致 SP-C 缺乏症是一种罕见的疾病。我们报告了一例足月女婴，她在出生后不久就出现呼吸窘迫和呼吸衰竭。从出生的第一天起，婴儿就需要机械通气。外源性表面活性剂或皮质激素的应用并没有导致任何临床改善。基因分析确定了一种新型 SFTPC 突变是导致她肺部疾病的原因。该患者被诊断为杂合子，携带第 4 外显子编码的 Cys121Gly/C121G 取代，该取代在父母双方均未检出。羟氯喹的实验性治疗在 2 周内显著改善了临床症状。不再需要机械通气，患儿无需额外吸氧即可出院。在治疗期间，患儿情况良好，直至 6 个月大。此后，成功停止了治疗。
