Lipoprotein glomerulopathy: a case report of a rare disease in a brazilian child

Jornal Brasileiro de Nefrologia

Karla Lais Pegas¹  Roberta Rohde¹  Clotilde Druck Garcia¹  Viviane De Barros Bittencourt¹  Elizete Keitel¹  Jose Antonio Tesser Poloni¹  Eduardo Cambruzzi¹ 

关键词: apolipoproteins E;    kidney;    lipoproteins;    nephrotic syndrome;    pathology;    apolipoproteinas E;    lipoproteinas;    patologia;    rim;    sindrome nefrotica;   

DOI  :  10.5935/0101-2800.20140015

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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