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Pediatric Nephrology

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01.10.2007 | Brief Report

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy

verfasst von: Asha Moudgil, Paige Perriello, Brett Loechelt, Ronald Przygodzki, Wendy Fitzerald, Naynesh Kamani

Erschienen in: Pediatric Nephrology | Ausgabe 10/2007

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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).

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Titel: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy
verfasst von: Asha Moudgil
Paige Perriello
Brett Loechelt
Ronald Przygodzki
Wendy Fitzerald
Naynesh Kamani
Publikationsdatum: 01.10.2007
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 10/2007
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0532-0

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