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 | |
| Publication status | Published - 2015 Apr 1 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
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Familial IPEX syndrome : Different glomerulopathy in two siblings. / Park, Eujin; Chang, Hye Jin; Shin, Jae Il; Lim, Beom Jin; Jeong, Hyeon Joo; Lee, Kyoung Bun; Moon, Kyoung Chul; Kang, Hee Gyung; Ha, Il Soo; Cheong, Hae Il.
In: Pediatrics International, Vol. 57, No. 2, 01.04.2015, p. e59-e61.Research output: Contribution to journal › Article
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.
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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 -