摘要
目的了解海南省三亚地区先天性肾病综合征(congenital nephrotic syndrome,CNS)的临床病理特征及其NPHS1基因突变特点。方法回顾性分析海南省三亚市人民医院2010年01月以来肾内科门诊就诊并来自三亚地区的38092例患者的临床资料,其中CNS的确诊依据临床表现、肾组织光镜、免疫组化、相关实验室检查及基因诊断。结果三亚地区CNS的发病率约0.08‰(3/38092),在3例确诊为CNS的患儿中,均具有家族史,并以大量蛋白尿、低蛋白血症及水肿为共同典型的临床表现。其中,2例为芬兰型CNS,1例为法国型CNS。同时,在3例CNS患儿中,2例为NPHS1基因的IVS26DS-2A>T和p.R1109X(c.3325C>T)杂合突变,其父亲均携带IVS26DS-2A>T,其母亲均携带p.R1109X;1例为NPHS1基因的p.R1109X(c.3325C>T)和p.A1160X(c.3478C>T)杂合突变,其母亲携带p.R1109X突变,其父亲携带p.A1160X;但均未检出NPHS2基因突变和新的NPHS1基因变异。结论三亚地区CNS发病表现为家族聚集性,芬兰型是该地区主要临床病理特征,而通过检测父母NPHS1基因,可有效预防其患儿出生。
Objective:To investigate the clinicopathological features and analysis NPHS1 gene mutation of 3 cases about congenital nephrotic syndrome(CNS)in Sanya Hainan province.Methods:Clinical data of 65,294 patients in outpatient department of renal medicine in Sanya People′s Hospital of Hainan province since January 2010 were retrospectively analyzed,among which CNS diagnosis was based on clinical manifestations of renal tissue immunohistochemical laboratory examination and gene diagnosis.Results:The incidence of CNS Sanya area is about 0.08‰(3/38092).In 3 cases of children with a diagnosis of CNS have a family history.And that is common with macroalbuminuria,hypoalbuminemia and edema of the typical clinical manifestations.Among them,2 cases of CNS Finnish type and 1 case for French CNS type.At the same time,in 3 cases of children with CNS,2 cases of NPHS1 gene IVS26DS-2A>T and p.R 1109X(c.3325c>T)heterozygous mutations,who their father carry IVS26DS-2A>T and mother must carry p.R1109X.The other one of NPHS1 gene p.R1109x(c.3325C>T)and p.A1160X(c.3478C>T)heterozygous mutations,who his mother carry p.R1109X and father must carry p.A1160X.However,none of them detected NPHS2 mutation and the new NPHS1 mutation.Conclusion:The incidence of CNS in Sanya has obvious familial aggregation,and the Finnish type is its main pathological feature.The detection of parental NPHS1 gene can effectively prevent the birth of children with CNS.
作者
符薇薇
陈鹏
吉晓天
FU Wei-wei;CHEN Peng;JI Xiao-tian(Department of Nephrology,The People′s Hospital of Sanya,Sanya 572000,China)
出处
《中国优生与遗传杂志》
2020年第3期292-294,共3页
Chinese Journal of Birth Health & Heredity
