Department of Pediatric Nephrology and Pediatric Renal Transplantation, Institute of Kidney Diseases and Research Center and Dr. H L Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Gujarat University of Transplantation Sciences, Ahmedabad, India.
B.T.Savani Hospital, Rajkot, India.
CEN Case Rep. 2024 Oct;13(5):403-407. doi: 10.1007/s13730-024-00861-7. Epub 2024 Mar 4.
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.
脂蛋白肾小球病（LPG）是一种罕见的肾脏脂质沉积病，其特征为肾小球内脂蛋白血栓、异常的血浆脂蛋白谱和血清载脂蛋白 E（apo E）水平显著升高。它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）。在儿童中较为罕见。临床表现可为肾病综合征、血尿或进行性肾衰竭。本文报告了首例在印度 7.5 岁男孩中发现的 LPG，该男孩表现为伴有正常肾功能的激素耐药性肾病综合征。肾活检提示脂蛋白肾小球病。通过外显子组测序检测到 apo E，京都型的致病性变异，从而确诊为脂蛋白肾小球病。血管紧张素转换酶抑制剂和非诺贝特完全缓解。
