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

12 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

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1111/ped.12570

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Park, E., Chang, H. J., Shin, J. I., Lim, B. J., Jeong, H. J., Lee, K. B., Moon, K. C., Kang, H. G., Ha, I. S., & Cheong, H. I. (2015). Familial IPEX syndrome: Different glomerulopathy in two siblings. Pediatrics International, 57(2), e59-e61. https://doi.org/10.1111/ped.12570

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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.",

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AU - Lee, Kyoung Bun

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