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Familial IPEX syndrome: Different glomerulopathy in two siblings
Author(s) -
Park Eujin,
Chang Hye Jin,
Shin Jae Il,
Lim Beom Jin,
Jeong Hyeon Joo,
Lee Kyoung Bun,
Moon Kyoung Chul,
Kang Hee Gyung,
Ha IlSoo,
Cheong Hae Il
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12570
Subject(s) - medicine , glomerulopathy , nephrotic syndrome , enteropathy , immune dysregulation , membranous nephropathy , nephropathy , autoimmunity , immunology , glomerulonephritis , immune system , kidney , disease , endocrinology , diabetes mellitus
Immune dysregulation, polyendocrinopathy, enteropathy, X ‐linked ( IPEX ) syndrome ( OMIM 304790) is a rare hereditary disorder of the immune regulatory system caused by FOXP 3 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.