Familial IPEX syndrome: different glomerulopathy in two siblings

Pediatr Int. 2015 Apr;57(2):e59-61. doi: 10.1111/ped.12570. Epub 2015 Feb 24.

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.

Keywords: FOXP3; IPEX syndrome; membranous nephropathy; minimal change nephrotic syndrome; regulatory T cell.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Diabetes Mellitus, Type 1 / congenital*
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / genetics
  • Diarrhea / diagnosis*
  • Diarrhea / genetics
  • Forkhead Transcription Factors / genetics
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Glomerulonephritis, Membranous / diagnosis*
  • Glomerulonephritis, Membranous / genetics
  • Humans
  • Immune System Diseases / congenital*
  • Immune System Diseases / diagnosis
  • Immune System Diseases / genetics
  • Infant, Newborn
  • Kidney / pathology*
  • Male
  • Mutation
  • Nephrosis, Lipoid / diagnosis*
  • Nephrosis, Lipoid / genetics
  • Siblings

Substances

  • FOXP3 protein, human
  • Forkhead Transcription Factors

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome