Furong Li, Huan Zou, Li Liu, Tangli Xiao, Bo Zhang, Jun Zhang
{"title":"一个中国IgA肾病家族中UMOD的新突变：一例报告。","authors":"Furong Li, Huan Zou, Li Liu, Tangli Xiao, Bo Zhang, Jun Zhang","doi":"10.1159/000531891","DOIUrl":null,"url":null,"abstract":"<p><p>IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glomerular lesions were rather weak except slight mesangial hyperplasia. Immunological staining of kidney tissue revealed the positive immunological staining of IgA and C3. By using whole-exome sequencing, a heterozygous variant in <i>UMOD</i> gene was found and was confirmed by Sanger sequencing. The variant in <i>UMOD</i> gene might contribute to the disease and this case helps understand the correlation of genotype and phenotypes of UMOD mutations.</p>","PeriodicalId":9599,"journal":{"name":"Case Reports in Nephrology and Dialysis","volume":"13 1","pages":"129-134"},"PeriodicalIF":0.7000,"publicationDate":"2023-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601884/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report.\",\"authors\":\"Furong Li, Huan Zou, Li Liu, Tangli Xiao, Bo Zhang, Jun Zhang\",\"doi\":\"10.1159/000531891\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glomerular lesions were rather weak except slight mesangial hyperplasia. Immunological staining of kidney tissue revealed the positive immunological staining of IgA and C3. By using whole-exome sequencing, a heterozygous variant in <i>UMOD</i> gene was found and was confirmed by Sanger sequencing. The variant in <i>UMOD</i> gene might contribute to the disease and this case helps understand the correlation of genotype and phenotypes of UMOD mutations.</p>\",\"PeriodicalId\":9599,\"journal\":{\"name\":\"Case Reports in Nephrology and Dialysis\",\"volume\":\"13 1\",\"pages\":\"129-134\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2023-08-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601884/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Nephrology and Dialysis\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000531891\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Nephrology and Dialysis","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000531891","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report.
IgA nephropathy (IgAN) is the most prevalent primary glomerulonephritis worldwide, with varying clinical presentations. The hereditary susceptibility to IgAN is rather complex. In this report, a Chinese case of IgAN was recruited. Renal biopsy showed the tubular atrophy and dilatation, but the glomerular lesions were rather weak except slight mesangial hyperplasia. Immunological staining of kidney tissue revealed the positive immunological staining of IgA and C3. By using whole-exome sequencing, a heterozygous variant in UMOD gene was found and was confirmed by Sanger sequencing. The variant in UMOD gene might contribute to the disease and this case helps understand the correlation of genotype and phenotypes of UMOD mutations.
期刊介绍：
This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of nephrology and dialysis, including genetic susceptibility, clinical presentation, diagnosis, treatment or prevention, toxicities of therapy, critical care, supportive care, quality-of-life and survival issues. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
