{"title":"Alport syndrome complicated with steroid-sensitive nephrotic syndrome: a case report.","authors":"Qian Fu, Yuling Luo, Xingfeng Yao, Hui Wang","doi":"10.1007/s00467-025-06854-7","DOIUrl":null,"url":null,"abstract":"<p><p>At 2 years and 4 months old, a girl presented with microscopic hematuria, mild edema, and nephrotic-range proteinuria with hypoalbuminemia and hypercholesterolemia without other extrarenal manifestations. She had a family history of microscopic hematuria. Kidney biopsy revealed a glomerular basal membrane of uneven thickness combined with podocytopathy. Genetic testing revealed a heterozygous c.3499G > A (p.Gly1167Arg) variant in COL4A3, which has been reported as a pathogenic variant of autosomal dominant Alport syndrome; this variant was inherited from her father. Treatment with steroids and immunosuppressants was effective. Podocytopathy should be considered in Alport syndrome patients with a young age of onset and nephrotic-range proteinuria. Electron microscopy plays an important role in diagnosis.</p>","PeriodicalId":19735,"journal":{"name":"Pediatric Nephrology","volume":" ","pages":"3651-3654"},"PeriodicalIF":2.6000,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00467-025-06854-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/24 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
At 2 years and 4 months old, a girl presented with microscopic hematuria, mild edema, and nephrotic-range proteinuria with hypoalbuminemia and hypercholesterolemia without other extrarenal manifestations. She had a family history of microscopic hematuria. Kidney biopsy revealed a glomerular basal membrane of uneven thickness combined with podocytopathy. Genetic testing revealed a heterozygous c.3499G > A (p.Gly1167Arg) variant in COL4A3, which has been reported as a pathogenic variant of autosomal dominant Alport syndrome; this variant was inherited from her father. Treatment with steroids and immunosuppressants was effective. Podocytopathy should be considered in Alport syndrome patients with a young age of onset and nephrotic-range proteinuria. Electron microscopy plays an important role in diagnosis.
2岁零4个月时，一名女孩表现为显微镜下血尿，轻度水肿，肾性蛋白尿伴低白蛋白血症和高胆固醇血症，无其他肾外表现。她有血尿家族史。肾活检显示肾小球基底膜厚度不均并足细胞病。基因检测显示COL4A3中存在c.3499G > a （p.Gly1167Arg）杂合变异，已报道为常染色体显性Alport综合征的致病变异；这种变异遗传自她父亲。类固醇和免疫抑制剂治疗是有效的。在Alport综合征的年轻发病和肾范围蛋白尿患者中应考虑足细胞病。电子显微镜在诊断中起着重要作用。
期刊介绍：
International Pediatric Nephrology Association
Pediatric Nephrology publishes original clinical research related to acute and chronic diseases that affect renal function, blood pressure, and fluid and electrolyte disorders in children. Studies may involve medical, surgical, nutritional, physiologic, biochemical, genetic, pathologic or immunologic aspects of disease, imaging techniques or consequences of acute or chronic kidney disease. There are 12 issues per year that contain Editorial Commentaries, Reviews, Educational Reviews, Original Articles, Brief Reports, Rapid Communications, Clinical Quizzes, and Letters to the Editors.
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