Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong.
Department of Pathology, Queen Mary Hospital, Hong Kong.
J Clin Lipidol. 2019 Mar-Apr;13(2):251-253. doi: 10.1016/j.jacl.2018.12.004. Epub 2018 Dec 19.
Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant renal disease with incomplete penetrance, associated with specific protein-modifying mutations in the APOE gene. LPG is associated with poor renal prognosis, in which lipoprotein thrombi are seen in the glomerular capillaries. Dyslipidemia in LPG generally resembles type III hyperlipoproteinemia with elevated serum apolipoprotein E level. Fibrate is the most frequently reported lipid-lowering therapy in LPG as hypertriglyceridemia is common in these individuals. There are few existing case reports on effectiveness of statin monotherapy for LPG. We report a 32-year-old Chinese man who presented with nephrotic syndrome, renal impairment, severe hypercholesterolemia without hypertriglyceridemia, and hypertension. Renal biopsy confirmed lipoprotein glomerulopathy. Genetic testing confirmed APOE Kyoto mutation. Anti-hypertensive therapy, including angiotensin receptor blocker, and statin were initiated. Concomitant with normalization of lipid profile, his proteinuria markedly improved, and his renal function has remained stable up to 3 years, demonstrating sustained benefit with statin monotherapy in LPG.
脂蛋白肾小球病（LPG）是一种罕见的常染色体显性遗传性肾脏疾病，其外显率不完全，与 APOE 基因中的特定蛋白修饰突变有关。LPG 与不良的肾脏预后相关，在这种疾病中，脂蛋白血栓可见于肾小球毛细血管中。LPG 中的血脂异常通常类似于 III 型高脂蛋白血症，血清载脂蛋白 E 水平升高。纤维酸酯是 LPG 中最常报道的降脂治疗方法，因为这些患者常伴有高甘油三酯血症。关于他汀类药物单药治疗 LPG 的有效性的现有病例报告很少。我们报告了一名 32 岁的中国男性，他表现为肾病综合征、肾功能损害、严重高胆固醇血症而无高甘油三酯血症和高血压。肾活检证实为脂蛋白肾小球病。基因检测证实 APOE Kyoto 突变。开始了抗高血压治疗，包括血管紧张素受体阻滞剂和他汀类药物。随着血脂谱正常化，他的蛋白尿显著改善，肾功能在 3 年内保持稳定，表明他汀类药物单药治疗 LPG 具有持续的益处。
