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Kidney Week

Abstract: SA-PO376

A Case of Membranous Nephropathy in a Child with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Session Information

Category: Trainee Case Report

  • 1700 Pediatric Nephrology

Authors

  • Spiwak, Elizabeth, Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, United States
  • Nailescu, Corina, Riley Hospital For Children at Indiana University Health, Indianapolis, Indiana, United States
  • Wilson, Amy C., Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, United States
  • Kouri, Anne, Indiana University School of Medicine, Indianapolis, Indiana, United States
  • Pottanat, Neha Dhingra, Riley Hospital for Children at Indiana University Health, Indianapolis, Indiana, United States
  • Khalid, Myda, Indiana University, Indianapolis, Indiana, United States
Introduction

Classic IPEX syndrome is an autosomal recessive genetic disorder secondary to a mutation in the FOXP3 gene. It is characterized by enteropathy, chronic dermatitis, type I diabetes mellitus (T1DM), hypoparathyroidism, antibody mediated cytopenias, and immune dysregulation. Up to 33% of patients with IPEX syndrome have renal complications, including tubulointerstitial nephritis, focal tubular atrophy, minimal change disease, membranous glomerulopathy and irregular granular immune deposits in glomeruli/tubular basement membranes. There are fewer than 10 reported cases in the literature.

Case Description

A 3-year-old female, with a history of IPEX (known gain of function mutation in STAT3 gene), T1DM, hypothyroidism, nephrocalcinosis, and history of AKI presented with edema. Laboratory studies confirmed nephrotic syndrome: albumin of 1.6gm/dl, urine protein to creatinine ratio of 33. Renal function was normal. No abnormalities found on complement, ANA, or ANCA testing; renal biopsy demonstrated subepithelial electron dense deposits consistent with membranous glomerulopathy with autoantibodies to phospholipase A2 receptor (PLA2R-positive) on biopsy stain and negative serum PLA2R. She is currently treated symptomatically with twice weekly albumin infusions in addition to intermittent IVIG. Treatment with sirolimus was initiated based on successful outcomes reported in some case reports however it did not allow for remission of nephrotic syndrome after 9 weeks of treatment. Since non-autologous stem cell transplant allows for rapid clinical improvement, the aim is for this patient to receive a stem cell transplant from a sibling who will be born in a few weeks from the time of submission of this abstract.

Discussion

PLA2R-postive membranous nephropathy in the setting of IPEX syndrome is exceedingly rare and there is limited data in regards to treatment. Long-term immunosuppression and bone marrow transplantation are the current therapies utilized. IVIG and prophylactic antibiotics are often used adjunctively. Calcineurin inhibitors, mTOR inhibitors and/or steroids have been used to achieve long-term immunosuppression. As more cases are reported in the literature of PLA2R-positive membranous nephropathy in the context of IPEX syndrome better treatment options and outcomes may be established.