title: Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy.
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).
authors.affiliation: Division of Nephrology, 1.5-100, West Wing, Children National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA. amoudgil@cnmc.org
authors.forename: Asha
authors.initials: A
authors.lastname: Moudgil
authors.forename: Paige
authors.initials: P
authors.lastname: Perriello
authors.forename: Brett
authors.initials: B
authors.lastname: Loechelt
authors.forename: Ronald
authors.initials: R
authors.lastname: Przygodzki
authors.forename: Wendy
authors.initials: W
authors.lastname: Fitzerald
authors.forename: Naynesh
authors.initials: N
authors.lastname: Kamani
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D003967:Diarrhea; D005091:Exons; D051858:Forkhead Transcription Factors / Q000235:genetics; D005921:Glomerulonephritis / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011507:Proteinuria / Q000209:etiology*; D015534:Trans-Activators; D014839:Vomiting; D015431:Weight Loss
chemical_list: C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D018398:Homeodomain Proteins; D015534:Trans-Activators; C084010:pancreatic and duodenal homeobox 1 protein