脂蛋白肾小球病:导致儿童类固醇耐受性肾病综合征的罕见病因。

IF 1 Q4 UROLOGY & NEPHROLOGY CEN Case Reports Pub Date : 2024-10-01 Epub Date: 2024-03-04 DOI:10.1007/s13730-024-00861-7
Kinnari Vala, Kanisha Shah, Shahenaz Kapadia, Mahipal Khandelwal, Amit Jojera, Shailesh Soni, Ashka Prajapati, Anshuman Saha
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引用次数: 0

摘要

脂蛋白肾小球病(LPG)是一种罕见的肾脏脂质病变,其特征是肾小球内的脂蛋白血栓、血浆脂蛋白谱异常以及血清载脂蛋白 E(apo E)水平明显升高。这是一种常染色体显性遗传的单基因疾病,平均发病年龄为 32 岁(4-69 岁)。儿童患者很少见。表现为肾病综合征、血尿或进行性肾功能衰竭。我们在此报告了第一例印度 7.5 岁男孩的 LPG 病例,该男孩表现为类固醇抵抗性肾病综合征,肾功能正常。肾活检提示为脂蛋白肾小球病。通过外显子组测序检测出京都型载脂蛋白 E 的致病变体,确诊为脂蛋白肾小球病。使用血管紧张素转换酶抑制剂和非诺贝特类药物后,病情得到了完全缓解。
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Lipoprotein glomerulopathy: a rare cause of steroid-resistant nephrotic syndrome in a child.

Lipoprotein glomerulopathy (LPG) is a rare condition of renal lipidosis characterized by lipoprotein thrombi in glomeruli, an abnormal plasma lipoprotein profile, and a marked increase in serum apolipoprotein E (apo E) levels. It is a monogenic disorder with autosomal dominant inheritance and the average age of presentation is 32 years (4-69 years). It is rare in children. The presentation can be nephrotic syndrome, hematuria, or progressive renal failure. Here we report the first described case of LPG in an Indian 7.5-year-old boy who presented with steroid-resistant nephrotic syndrome with normal renal function. A renal biopsy was suggestive of lipoprotein glomerulopathy. The detection of a pathogenic variant in apo E, Kyoto type, by exome sequencing, confirmed the diagnosis of lipoprotein glomerulopathy. Complete response was achieved with Angiotensin-converting Enzyme inhibitor and fenofibrates.

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来源期刊
CEN Case Reports
CEN Case Reports UROLOGY & NEPHROLOGY-
CiteScore
1.90
自引率
0.00%
发文量
80
期刊介绍: Clinical and Experimental Nephrology (CEN) Case Reports is a peer-reviewed online-only journal, officially published biannually by the Japanese Society of Nephrology (JSN).  The journal publishes original case reports in nephrology and related areas.  The purpose of CEN Case Reports is to provide clinicians and researchers with a forum in which to disseminate their personal experience to a wide readership and to review interesting cases encountered by colleagues all over the world, from whom contributions are welcomed.
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