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

Research output: Contribution to journalArticle

9 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 languageEnglish
Pages (from-to)e59-e61
JournalPediatrics International
Volume57
Issue number2
DOIs
Publication statusPublished - 2015 Apr 1

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Lipoid Nephrosis
Membranous Glomerulonephritis
Siblings
Genetic Databases
Kidney
Autoimmune Diseases
Immune System
Mutation
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Park, E., Chang, H. J., Shin, J. I., Lim, B. J., Jeong, H. J., Lee, K. B., ... 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
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. / Familial IPEX syndrome : Different glomerulopathy in two siblings. In: Pediatrics International. 2015 ; Vol. 57, No. 2. pp. e59-e61.
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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}",
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Park, E, Chang, HJ, Shin, JI, Lim, BJ, Jeong, HJ, Lee, KB, Moon, KC, Kang, HG, Ha, IS & Cheong, HI 2015, 'Familial IPEX syndrome: Different glomerulopathy in two siblings', Pediatrics International, vol. 57, no. 2, pp. e59-e61. https://doi.org/10.1111/ped.12570

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 journalArticle

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AU - Park, Eujin

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AU - Shin, Jae Il

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AU - Lee, Kyoung Bun

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AU - Cheong, Hae Il

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