Lipoprotein glomerulopathy caused by mutation of apolipoprotein E gene in children: a report of two cases
10.3760/cma.j.cn441217-20220518-00528
- VernacularTitle:载脂蛋白E基因突变导致的儿童脂蛋白肾病2例
- Author:
Yaqin WEI
1
;
Jun YAO
;
Pei ZHANG
;
Chunlin GAO
;
Xu HE
;
Lili JIA
;
Xiaojie LI
;
Zhengkun XIA
Author Information
1. 南方医科大学第一临床医学院南京临床医学院（东部战区总医院）儿科，南京 210002
- Keywords:
Apolipoproteins E;
Mutation;
Child;
Lipoprotein glomerulopathy
- From:
Chinese Journal of Nephrology
2023;39(3):215-219
- CountryChina
- Language:Chinese
-
Abstract:
The paper reports two cases of lipoprotein glomerulopathy (LPG) in children. The Sanger sequencing results in 2 cases indicated apolipoprotein E gene mutation[c.127 (exon3) C>T, p.R43C (p.Arg43Cys); c.494 (exon4) G>C, p.R165P (p.Arg165Pro),respectively]. Renal pathological presentation of two children showed that a large number of lipoprotein emboli were formed in the glomerular capillary loop, and the diagnosis of LPG was confirmed. The onset of LPG has no specific clinical manifestation, which is easy to be undiagnosed or misdiagnosed. Renal biopsy is a diagnostic means, glucocorticoid treatment is ineffective, and long-term lipid-lowering treatment may be required for LPG.
