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

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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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References

  1. Rapola J (1987) Congenital nephrotic syndrome. Pediatr Nephrol 1:441–446

    Article  CAS  Google Scholar 

  2. Cooperstone BG, Friedman A, Kaplan BS (1993) Galloway–Mowat syndrome of abnormal gyral patterns and glomerulopathy. Am J Med Genet 47:250–254

    Article  CAS  Google Scholar 

  3. Mehta KP, Ali US, Chitale AR, Jha U, Khubchandani S (1993) Glomerular basement membrane abnormalities in infants with heavy proteinuria. Pediatr Nephrol 7:401–403

    Article  CAS  Google Scholar 

  4. Holmberg C, Laine J, Ronnholm K, Ala-Houhala M, Jalanko H (1996) Congenital nephrotic syndrome. Kidney Int Suppl 53:S51–S56

    CAS  PubMed  Google Scholar 

  5. Besbas N, Bayrakci US, Kale G, Cengiz AB, Akcoren Z, Akinci D, Kilic I, Bakkaloglu A (2006) Cytomegalovirus-related congenital nephrotic syndrome with diffuse mesangial sclerosis. Pediatr Nephrol 21:740–742

    Article  Google Scholar 

  6. Habib R (1993) Nephrotic syndrome in the 1st year of life. Pediatr Nephrol 7:347–353

    Article  CAS  Google Scholar 

  7. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy S (2007). Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 109:383–385

    Article  CAS  Google Scholar 

  8. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet 27:20–21

    Article  CAS  Google Scholar 

  9. Wildin RS, Freitas A (2005) IPEX and FOXP3: clinical and research perspectives. J Autoimmun 25 Suppl:56–62

    Article  Google Scholar 

  10. Myers AK, Perroni L, Costigan C, Reardon W (2006) Clinical and molecular findings in IPEX syndrome. Arch Dis Child 91:63–64

    Article  CAS  Google Scholar 

  11. Bennett CL, Ochs HD (2001) IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena. Curr Opin Pediatr 13:533–538

    Article  CAS  Google Scholar 

  12. Di Rocco M, Marta R (1996) X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed 75:F144

    Article  Google Scholar 

  13. Wildin RS, Smyk-Pearson S, Filipovich AH (2002) Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 39:537–545

    Article  CAS  Google Scholar 

  14. Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K (2001) Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet 38:874–876

    Article  CAS  Google Scholar 

  15. Kobayashi I, Imamura K, Yamada M, Okano M, Yara A, Ikema S, Ishikawa N (1998) A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin Exp Immunol 111:527–531

    Article  CAS  Google Scholar 

  16. Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SH (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. J Clin Endocrinol Metab 88:6034–6039

    Article  CAS  Google Scholar 

  17. Godfrey VL, Wilkinson JE, Russell LB (1991) X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. Am J Pathol 138:1379–1387

    CAS  PubMed  PubMed Central  Google Scholar 

  18. Schubert LA, Jeffery E, Zhang Y, Ramsdell F, Ziegler SF (2001) Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation. J Biol Chem 276:37672–37679

    Article  CAS  Google Scholar 

  19. Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O, Ruemmele FM (2005) Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome). J Pediatr 147:256–259

    Article  Google Scholar 

  20. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, Dupuis-Girod S, Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, Fischer A, Casanova JL (2001) Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 344:1758–1762

    Article  CAS  Google Scholar 

  21. Lucas KG, Ungar D, Comito M, Bayerl M, Groh B (2007) Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. Bone Marrow Transplant 39:55–56

    Article  CAS  Google Scholar 

  22. Mattoo TK (1994) Hypothyroidism in infants with nephrotic syndrome. Pediatr Nephrol 8:657–919

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Nephrology, 1.5-100, West Wing, Children National Medical Center, 111 Michigan Avenue, NW, Washington, D.C., 20010, USA

    Asha Moudgil

  2. Department of Pediatrics, Children National Medical Center, Washington, D.C., USA

    Paige Perriello

  3. Division of Stem Cell Transplantation and Immunology, Children National Medical Center, Washington, D.C., USA

    Brett Loechelt, Wendy Fitzerald & Naynesh Kamani

  4. Division of Pathology, Children National Medical Center, Washington, D.C., USA

    Ronald Przygodzki

Authors
  1. Asha Moudgil
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  2. Paige Perriello
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  3. Brett Loechelt
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  4. Ronald Przygodzki
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  5. Wendy Fitzerald
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  6. Naynesh Kamani
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Correspondence to Asha Moudgil.

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Moudgil, A., Perriello, P., Loechelt, B. et al. Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy. Pediatr Nephrol 22, 1799–1802 (2007). https://doi.org/10.1007/s00467-007-0532-0

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  • DOI: https://doi.org/10.1007/s00467-007-0532-0

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