Pêgas Karla Lais, Rohde Roberta, Garcia Clotilde Druck, Bittencourt Viviane de Barros, Keitel Elizete, Poloni José Antonio Tesser, Cambruzzi Eduardo
Universidade Federal de Ciencias da Saude de Porto Alegre.
Santa Casa de Porto Alegre.
J Bras Nefrol. 2014 Jan-Mar;36(1):93-5. doi: 10.5935/0101-2800.20140015.
Lipoprotein glomerulopathy (LPG) is a rare autosomal recessive glomerulopathy associated with the deposition of lipoprotein thrombi in the capillary lumina due to apoE gene mutations. Abnormal plasma lipoprotein profile and marked increase in serum apoliprotein E (apoE) are characteristic clinical data. The compromised patients can present nephrotic syndrome, hematuria, and progressive renal failure. Herein, the authors present the first described case of LPG in a Brazilian male patient, 11 years, who presented with a steroid-resistant nephrotic syndrome. Renal function was normal. Kidney biopsy showed markedly enlarged glomerulus, with dilated capillary loops and weak eosinophilic lipoprotein thrombi in the capillary lumina. Interstitium, tubules, arteries, and veins showed normal histologic aspect. Genotypic study for the apoE gene showed the presence of the alleles E3 and E4. The diagnosis of LPG was then performed. The patient received lipid-lowering treatment. After 2 years of follow-up, renal function is gradually decreasing, with persisting heavy proteinuria, despite a marked decrease in serum cholesterol and triglycerides levels.
脂蛋白肾小球病（LPG）是一种罕见的常染色体隐性肾小球病，由于载脂蛋白E（apoE）基因突变，导致脂蛋白血栓在毛细血管腔中沉积。异常的血浆脂蛋白谱和血清载脂蛋白E（apoE）显著升高是其典型的临床数据。患者可能出现肾病综合征、血尿和进行性肾衰竭。在此，作者报告了首例11岁巴西男性脂蛋白肾小球病患者，该患者表现为激素抵抗型肾病综合征。其肾功能正常。肾脏活检显示肾小球明显增大，毛细血管袢扩张，毛细血管腔内有淡嗜酸性脂蛋白血栓。间质、肾小管、动脉和静脉的组织学表现正常。对apoE基因进行的基因分型研究显示存在E3和E4等位基因。随后确诊为脂蛋白肾小球病。该患者接受了降脂治疗。经过2年的随访，尽管血清胆固醇和甘油三酯水平显著下降，但肾功能仍逐渐减退，蛋白尿持续大量存在。
