title: Autoimmune polyglandular syndrome type I can have significant kidney disease in children including recurrence in renal allograft - a report of two cases.
abstract: BACKGROUND
  Autoimmune polyglandular syndrome type 1 (APS 1) is an autosomal recessive disorder characterized by immune injury of multiple organ systems (primarily endocrine) secondary to a mutation in the autoimmune regulator (AIRE) gene. In some cases, patients develop tubulointerstitial nephritis (TIN) and progress to end-stage renal failure (ESRD).
  
  
  METHODS
  We describe two patients with APS 1 and TIN. In both cases, TIN was clinically silent and the diagnosis was confirmed by renal biopsy. In one patient, renal function remained stable with immunosuppressive therapy. A second patient progressed to ESRD despite treatment, and received a deceased donor allograft. TIN recurred in the transplanted kidney and was reversed successfully with rituximab. Severe, recurrent esophageal candidiasis also resolved.
  
  
  CONCLUSIONS
  TIN is an important complication of APS 1 that may result in ESRD, and may recur in the transplanted kidney. TIN may be under-recognized, as the presentation is unapparent clinically and urinalysis remains normal. Immunosuppressive therapy may be effective and, therefore, routine monitoring of renal function is warranted in asymptomatic individuals.
authors.forename: Rachel
authors.initials: R
authors.lastname: Gwertzman
authors.forename: Howard
authors.initials: H
authors.lastname: Corey
authors.forename: Isabel
authors.initials: I
authors.lastname: Roberti
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000601:surgery; D016030:Kidney Transplantation; D008297:Male; D009395:Nephritis, Interstitial / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000473:pathology; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000175:diagnosis; D012008:Recurrence; D000069283:Rituximab / Q000627:therapeutic use
chemical_list: D007166:Immunosuppressive Agents; D000069283:Rituximab