摘要
目的总结PLCE1基因突变致终末期肾病的临床和基因变异特征。方法回顾性分析一家系3例PLCE1基因突变患儿的临床和遗传学特征,并对PLCE1基因突变致遗传性肾病病例进行文献复习。结果先证者8岁男性,表现为肾病综合征、慢性肾脏病4期,肾活检为局灶性节段性肾小球硬化,肾移植术后2年5个月,尿蛋白持续阴性,肾功能正常。全外显子组测序发现2个致病杂合变异c.961C>T和c.3255_3256delinsT,其中c.3255_3256delinsT为新发突变。家系筛查显示父母无肾脏受累,5位同胞中,1位胞兄于4岁时因终末期肾病死亡;7岁胞妹有蛋白尿和双侧髓质海绵肾,随访1年尿蛋白转阴;3岁胞弟肾移植后因重症肺炎死亡。文献复习共纳入45例PLCE1基因突变致遗传性肾病患者,主要临床表型为肾病综合征(87%,39/45),肾脏病理以局灶性节段性肾小球硬化为主(57%,16/28)。未见热点突变位点。结论PLCE1基因复合杂合突变可导致疾病迅速进展至终末期肾病,肾移植效果良好,家系筛查对早期诊断至关重要,髓质海绵肾可能为该基因突变的新表型。
Objective To summarize the clinical and genetic characteristics of end-stage renal disease caused by PLCE1 gene mutations.Methods A retrospective analysis of the clinical and genetic features of three children from a family with PLCE1 gene mutations was conducted,along with a literature review of hereditary kidney disease cases caused by PLCE1 gene mutations.Results The proband was an 8-year-old male presenting with nephrotic syndrome stage 4 chronic kidney disease.Renal biopsy showed focal segmental glomerulosclerosis.Two years and five months after kidney transplantation,the patient had persistent negative proteinuria and normal renal function.Whole-exome sequencing identified two pathogenic heterozygous variants:c.961C>T and c.3255_3256delinsT,with c.3255_3256delinsT being a novel mutation.Family screening revealed no renal involvement in the parents,but among five siblings,one brother died at age of 4 years from end-stage renal disease.A 7-year-old sister presented with proteinuria and bilateral medullary sponge kidney,with proteinuria resolving after one year of follow-up.A 3-year-old brother died after kidney transplantation due to severe pneumonia.The literature review included 45 patients with hereditary kidney disease caused by PLCE1 gene mutations.The main clinical phenotype was nephrotic syndrome(87%,39/45),and renal pathology predominantly showed focal segmental glomerulosclerosis(57%,16/28).No mutation hotspots were identified.Conclusions Compound heterozygous mutations in the PLCE1 gene can lead to rapid progression of the disease to end-stage renal disease,with favorable outcomes following kidney transplantation.Family screening is crucial for early diagnosis,and medullary sponge kidney may be a novel phenotype associated with these gene mutations.
作者
热依拉·阿巴斯
朱振淳
林知朗
庄宏杰
蒋小云
裴瑜馨
Reyila Abasi;ZHU Zhen-Chun;LIN Zhi-Lang;ZHUANG Hong-Jie;JIANG Xiao-Yun;PEI Yu-Xin(Department of Pediatric Nephrology and Rheumatology,The First Affiliated Hospital,Sun Yat-sen University,Guangzhou 510080,China)
出处
《中国当代儿科杂志》
北大核心
2025年第5期580-587,共8页
Chinese Journal of Contemporary Pediatrics
基金
广东省基础与应用基础研究项目(2021A1515110197)
国家重点研发计划(2022YFC2705100、2022YFC2705101)。
关键词
终末期肾病
肾移植
髓质海绵肾
PLCE1基因
儿童
End-stage renal disease
Kidney transplantation
Medullary sponge kidney
PLCE1 gene
Child
