以全身青紫为首发症状的先天性肾病综合征 1 例并文献复习

红 苗(南京大学医学院附属鼓楼医院新生儿科，中国)
静 岳(南京大学医学院附属鼓楼医院新生儿科，中国)
洁 邱(南京大学医学院附属鼓楼医院新生儿科，中国)
毅敏 戴(南京大学医学院附属鼓楼医院产科，中国)

摘要

目的：总结1例以青紫为首发症状的先天性肾病综合征患儿的临床资料及NPHS1基因突变类型，以提高对该疾病的认识。方法：回顾分析1例先天性肾病综合征患儿的临床资料，包括患儿及其父母的基因检测结果，分析基因突变位点并文献复习。结果：该婴33+6周早产儿，渐出现反复水肿、高脂血症、大量蛋白尿及低蛋白血症等临床表现，全外显子组（家系）基因检测提示该婴NPHS1基因c.2121G>A（p.W707）和c.809G>T（p.G270V）复合杂合变异，确诊先天性肾病综合征（芬兰型）。结论：新发现c.2121G>A和c.809G>T（p.G270V）突变，国内外未见报道，丰富了NPHS1基因的突变谱。

关键词

先天性肾病综合征；NPHS1基因；新生儿；窒息

参考

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v7i9.21176