芬兰型先天性肾病综合征1例报道  

A Case of Congenital Nephrotic Syndrome of the Finnish Type

作　　者：周瑜 陈琼 黄希[1,2,3] 杨栗茗[1,2,3] 陈娟 ZHOU Yu;CHEN Qiong;HUANG Xi;YANG Li-ming;CHEN Juan(Department of Neonatology,West China Second University HospitaU Sichuan University,Chengdu 610041,China;Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education^Chengdu 610041,China;Department of Nursing,West China Second University Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西第二医院新生儿科,成都610041 [2]出生缺陷与相关妇儿疾病教育部重点实验室(四川大学),成都610041 [3]四川大学华西第二医院护理部,成都610041

出　　处：《四川大学学报（医学版）》2020年第6期881-884,共4页Journal of Sichuan University(Medical Sciences)

基　　金：四川省卫生健康委员会项目(No.18PJ215)资助。

摘　　要：男性患儿,出生5+d,因"发现尿蛋白明显升高5+d"入院.患儿系36+4周早产儿,产时伴羊水Ⅲ°胎粪污染、胎盘增大,生后即发现蛋白尿、低蛋白血症、进行性加重的水肿;全外显子基因检测提示患儿存在NPHS1的2个杂合突变位点,c.3325C>T(p.Arg1109*)和c.2479C>T(p.Arg827*)复杂杂合突变,诊断为芬兰型先天性肾病综合征(congenital nephrotic syndrome of the Finnish type,CNF),其中c.2479C>T(p.Arg827*)基因突变位点国内未见报道.本次报道的c.2479C>T突变基因对国内CNF基因突变谱进行了扩充,原因不明的先天性肾病综合征(congenital nephrotic syndrome,CNS)建议早期行基因检测,CNS的早期诊断对预后评估、遗传咨询及临床管理具有重要意义.A 5+-day-old male patient was hospitalized due to a significant increase of urine protein for 5+ d. A36+4 weeks preterm male infant was found with III° polluted amniotic fluid and excessive placenta, presented with proteinuria, hypoproteinemia, and progressive edema after birth. Two heterozygous mutations of NPHS1 gene, c.3325 C>T(p.Arg1109*) and c.2479 C>T(p.Arg827*), were found through the whole exon gene detection. The latter has not been reported domestically and the diagnosis of congenitalnephrotic syndrome of the Finnish type(CNF) is definite. The report of c.2479 C>T mutation gene will expand the mutation spectrum of CNF gene data in China. Early genetic testing is recommended for cryptogenic congenital nephrotic syndrome(CNS) and early genetic diagnosis of CNF is important for prognostic evaluation, genetic counseling and clinical management.

关 键 词：芬兰型先天性肾病综合征 NHPS1 基因突变 

分 类 号：R726.9[医药卫生—儿科]