Renal Department and Institute of Nephrology, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Clinical Research Center for Kidney Diseases, Chengdu, China.
Medicine (Baltimore). 2022 Feb 4;101(5):e28718. doi: 10.1097/MD.0000000000028718.
Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare mutations in the apolipoprotein E (APOE) gene mainly contribute to disease pathogenesis.
A 28-year-old man presented with severe proteinuria and hyperlipidemia. The patient was treated with a full dose of prednisone for 2 months and then combined with leflunomide 20 mg daily for 20 days; however, his edema continued to worsen.
The patient was diagnosed LPG by laboratory examination and renal biopsy.
The patient was treated with atorvastatin (20 mg) combined with irbesartan (75 mg) once a day.
The patient's lipidaemia and proteinuria were significantly reduced. Genetic testing showed that the patient carried compound heterozygous mutations in APOE. The APOE gene was inherited from her mother and father. Parents with a heterogeneous mutation had normal kidney function without proteinuria.
Usually, a single mutation in APOE can lead to the pathogenesis of LPG. This case shows that LPG could result from compound heterogeneous mutations of the APOE gene inherited from his mother and father. Intensive lipid-lowering combined with RASIs is effective in patients with LPG. Early renal biopsy and genetic mutation detection can avoid the unnecessary use of glucocorticoids and immunosuppressants.
脂蛋白肾小球病（LPG）是一种罕见的肾小球疾病，其特征是脂蛋白栓子在肾小球毛细血管中沉积。该疾病的特征是蛋白尿、进行性肾衰竭和肾小球毛细血管中特征性的脂蛋白血栓形成。载脂蛋白 E（APOE）基因的罕见突变主要导致疾病发病机制。
一名 28 岁男性因严重蛋白尿和高脂血症就诊。患者接受了全剂量泼尼松治疗 2 个月，然后联合使用来氟米特 20mg 每天治疗 20 天；然而，他的水肿持续恶化。
实验室检查和肾活检诊断为 LPG。
患者接受阿托伐他汀（20mg）联合厄贝沙坦（75mg）每天一次治疗。
患者的血脂和蛋白尿显著减少。基因检测显示患者携带 APOE 的复合杂合突变。APOE 基因从母亲和父亲那里遗传。携带杂合突变的父母肾功能正常，无蛋白尿。
通常，APOE 中的单个突变可导致 LPG 的发病机制。本例表明，LPG 可能是由于从母亲和父亲那里遗传的 APOE 基因的复合杂合突变引起的。强化降脂联合 RASIs 对 LPG 患者有效。早期肾活检和基因突变检测可避免不必要地使用糖皮质激素和免疫抑制剂。
