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Familial IPEX syndrome: different glomerulopathy in two siblings.

Authors
 Eujin Park ; Hye Jin Chang ; Hae Il Cheong ; Il-Soo Ha ; Hee Gyung Kang ; Kyoung Chul Moon ; Kyoung Bun Lee ; Hyeon Joo Jeong ; Beom Jin Lim ; Jae Il Shin 
Citation
 Pediatrics International, Vol.57(2) : e59~e61, 2015 
Journal Title
 Pediatrics International 
ISSN
 1328-8067 
Issue Date
2015
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/141628
DOI
10.1111/ped.12570.
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Pediatrics
1. 연구논문 > 1. College of Medicine > Dept. of Pathology
Yonsei Authors
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Link
 http://onlinelibrary.wiley.com/doi/10.1111/ped.12570/full
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