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Familial IPEX syndrome: different glomerulopathy in two siblings

Authors
 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 
Citation
 PEDIATRICS INTERNATIONAL, Vol.57(2) : 59-61, 2015 
Journal Title
 PEDIATRICS INTERNATIONAL 
ISSN
 1328-8067 
Issue Date
2015
MeSH
Child, Preschool ; Diabetes Mellitus, Type 1/congenital* ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/genetics ; Diarrhea/diagnosis* ; Diarrhea/genetics ; Forkhead Transcription Factors/genetics ; Genetic Diseases, X-Linked/diagnosis* ; Genetic Diseases, X-Linked/genetics ; Glomerulonephritis, Membranous/diagnosis* ; Glomerulonephritis, Membranous/genetics ; Humans ; Immune System Diseases/congenital* ; Immune System Diseases/diagnosis ; Immune System Diseases/genetics ; Infant, Newborn ; Kidney/pathology* ; Male ; Mutation ; Nephrosis, Lipoid/diagnosis* ; Nephrosis, Lipoid/genetics ; Siblings
Keywords
FOXP3 ; IPEX syndrome ; membranous nephropathy ; minimal change nephrotic syndrome ; regulatory T cell
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.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/ped.12570/full
DOI
10.1111/ped.12570.
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Shin, Jae Il(신재일) ORCID logo https://orcid.org/0000-0003-2326-1820
Lim, Beom Jin(임범진) ORCID logo https://orcid.org/0000-0003-2856-0133
Jeong, Hyeon Joo(정현주) ORCID logo https://orcid.org/0000-0002-9695-1227
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/141628
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