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- Publisher
- Springer Journals
- Copyright
- Copyright © 2007 by IPNA
- Subject
- Medicine & Public Health; Pediatrics
- ISSN
- 0931-041X
- eISSN
- 1432-198X
- DOI
- 10.1007/s00467-007-0532-0
- pmid
- 17629750
- Publisher site
- See Article on Publisher Site
Abstract
We report on a 6-month-old child presenting with chronic diarrhea, failure to thrive, eczema, autoimmune hemolytic anemia (AIHA), insulin-dependent diabetes mellitus (IDDM), hypoalbuminemia, and proteinuria. Renal biopsy showed membranous glomerulonephritis. A diagnosis of Immunodysregulation, polyendocrinopathy, enteropathy, x-linked (IPEX) syndrome was subsequently confirmed by DNA analysis, which demonstrated the presence of a mutation in exon 2 of the FOXP3 gene (303–304 del TT). Proteinuria secondary to membranous glomerulonephritis is a novel feature of IPEX syndrome. Membranous glomerulonephritis went into remission after the patient had received hematopoietic stem cell transplantation (HSCT).
Journal
Pediatric Nephrology – Springer Journals
Published: Jul 13, 2007