1岁男童伴有MIRAGE综合征和肾病综合征,其肾脏组织病理学显示膜性肾病样表现:1例报告。

IF 2.6 3区 医学 Q1 PEDIATRICS
Shingo Ishimori, Aya Imaide, Tomoyuki Yokota, Satoshi Narumi, Norishige Yoshikawa
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引用次数: 0

摘要

MIRAGE综合征是一种罕见的多系统疾病,由SAMD9变异引起。一些MIRAGE综合征患者的肾活检显示肾小球硬化或间质性肾炎。1例遗传确诊为MIRAGE综合征的男孩,表现为微血尿和肾病范围蛋白尿,在18个月时进行肾活检,发现弥漫性系膜增生和部分节段性小叶加重与系膜细胞增生相关,未出现月牙状病变和硬化性肾小球。免疫荧光染色显示沿肾小球基底膜弥漫性颗粒状沉积IgG,系膜基质中主要沉积IgG。电镜显示弥漫性上皮下电子致密沉积物。开始用强的松龙治疗膜性肾病样病变,但蛋白尿持续存在。21个月大时,患者死于严重胃肠道感染和坏死性小肠结肠炎导致的多器官衰竭。这是第一例在MIRAGE综合征合并肾病综合征的儿童中出现组织学膜性肾病样表现和明显的系膜增生的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A 1-year-old boy with MIRAGE syndrome and nephrotic syndrome, whose kidney histopathology revealed membranous nephropathy-like findings: a case report.

MIRAGE syndrome is a rare multisystem disorder caused by gain-on-function SAMD9 variants. Kidney biopsies in some MIRAGE syndrome patients have shown glomerular sclerosis or interstitial nephritis. A boy with genetically confirmed MIRAGE syndrome, who showed microhematuria and nephrotic range proteinuria, underwent kidney biopsy at 18 months, revealing diffuse mesangial proliferation and partial segmental lobular accentuation associated with mesangial cell proliferation with neither crescentic lesions nor sclerotic glomeruli. Immunofluorescence staining showed diffuse granular deposition of IgG along the glomerular basement membrane and dominant deposition of IgG in the mesangial matrix. Electron microscopy revealed diffuse subepithelial electron-dense deposits. Treatment with prednisolone for membranous nephropathy-like findings was initiated but the proteinuria persisted. At 21 months of age, the patient died of multi-organ failure as a result of severe gastrointestinal infection and necrotizing enterocolitis. This is the first case with histologically membranous nephropathy-like findings and marked mesangial proliferation in a child with MIRAGE syndrome with nephrotic syndrome.

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来源期刊
Pediatric Nephrology
Pediatric Nephrology 医学-泌尿学与肾脏学
CiteScore
4.70
自引率
20.00%
发文量
465
审稿时长
1 months
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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