Familial IPEX syndrome: Different glomerulopathy in two siblings

被引：21

作者：

Park, Eujin ^{[1
]}

Chang, Hye Jin ^{[1
]}

Shin, Jae Il ^{[2
]}

Lim, Beom Jin ^{[3
]}

Jeong, Hyeon Joo ^{[3
]}

Lee, Kyoung Bun ^{[4
]}

Moon, Kyoung Chul ^{[4
,6
]}

Kang, Hee Gyung ^{[1
,5
]}

Ha, Il-Soo ^{[1
,6
]}

Cheong, Hae Il ^{[1
,5
,6
]}

机构：

[1] Seoul Natl Univ, Dept Pediat, Childrens Hosp, Seoul 110744, South Korea

[2] Severance Childrens Hosp, Dept Pediat, Seoul, South Korea

[3] Severance Childrens Hosp, Dept Pathol, Seoul, South Korea

[4] Seoul Natl Univ Hosp, Dept Pathol, Seoul 110744, South Korea

[5] Seoul Natl Univ Hosp, Res Coordinat Ctr Rare Dis, Seoul 110744, South Korea

[6] Seoul Natl Univ, Med Res Ctr, Kidney Res Inst, Coll Med, Seoul 110744, South Korea

来源：

PEDIATRICS INTERNATIONAL | 2015年 / 57卷 / 02期

关键词：

FOXP3; IPEX syndrome; membranous nephropathy; minimal change nephrotic syndrome; regulatory T cell; IMMUNE DYSREGULATION; POLYENDOCRINOPATHY; ENTEROPATHY; IMMUNODYSREGULATION; PATHOGENESIS;

D O I：

10.1111/ped.12570

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome (OMIM 304790) is a rare hereditary disorder of the immune regulatory system caused by FOXP3 mutations. The clinical features of this syndrome include a wide spectrum of severe autoimmune diseases and renal involvement, mostly due to tubulointerstitial diseases, in some patients. Glomerulopathy of membranous nephropathy (MN) and minimal change nephrotic syndrome (MCNS), however, have also been reported. We encountered two children with IPEX syndrome from the same family. Interestingly, they had different glomerular lesions: one had MN and the other had MCNS. Herein we describe the cases of these siblings and review the possible mechanisms for the development of two different renal lesions.

引用

页码：e59 / e61

页数：3

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