Familial IPEX syndrome: Different glomerulopathy in two siblings

Eujin Park; Hye Jin Chang; Jae Il Shin; Beom Jin Lim; Hyeon Joo Jeong; Kyoung Bun Lee; Kyoung Chul Moon; Hee Gyung Kang; Il Soo Ha; Hae Il Cheong

doi:10.1111/ped.12570

Familial IPEX syndrome: Different glomerulopathy in two siblings

Eujin Park, Hye Jin Chang, Jae Il Shin, Beom Jin Lim, Hyeon Joo Jeong, Kyoung Bun Lee, Kyoung Chul Moon, Hee Gyung Kang, Il Soo Ha, Hae Il Cheong

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

15 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	e59-e61
Journal	Pediatrics International
Volume	57
Issue number	2
DOIs	https://doi.org/10.1111/ped.12570
Publication status	Published - 2015 Apr 1

Bibliographical note

Publisher Copyright:
© 2015 Japan Pediatric Society.

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

Access to Document

10.1111/ped.12570

Cite this

@article{a4f7921b03fd42779504712e682e6068,

title = "Familial IPEX syndrome: Different glomerulopathy in two siblings",

abstract = "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.",

author = "Eujin Park and Chang, {Hye Jin} and Shin, {Jae Il} and Lim, {Beom Jin} and Jeong, {Hyeon Joo} and Lee, {Kyoung Bun} and Moon, {Kyoung Chul} and Kang, {Hee Gyung} and Ha, {Il Soo} and Cheong, {Hae Il}",

note = "Publisher Copyright: {\textcopyright} 2015 Japan Pediatric Society.",

year = "2015",

month = apr,

day = "1",

doi = "10.1111/ped.12570",

language = "English",

volume = "57",

pages = "e59--e61",

journal = "Pediatrics International",

issn = "1328-8067",

publisher = "Wiley-Blackwell",

number = "2",

}

TY - JOUR

T1 - Familial IPEX syndrome

T2 - Different glomerulopathy in two siblings

AU - Park, Eujin

AU - Chang, Hye Jin

AU - Shin, Jae Il

AU - Lim, Beom Jin

AU - Jeong, Hyeon Joo

AU - Lee, Kyoung Bun

AU - Moon, Kyoung Chul

AU - Kang, Hee Gyung

AU - Ha, Il Soo

AU - Cheong, Hae Il

PY - 2015/4/1

Y1 - 2015/4/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84927602149&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84927602149&partnerID=8YFLogxK

U2 - 10.1111/ped.12570

DO - 10.1111/ped.12570

M3 - Article

C2 - 25712815

AN - SCOPUS:84927602149

VL - 57

SP - e59-e61

JO - Pediatrics International

JF - Pediatrics International

SN - 1328-8067

IS - 2

ER -

Familial IPEX syndrome: Different glomerulopathy in two siblings

Abstract

Bibliographical note

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this