Abstract: PO2013
Rare Case of Atypical Hemolytic Uremic Syndrome in a Child
Session Information
- Pediatric Nephrology: Genetics, Kidney Stones, Quality Improvement, and Case Reports
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1700 Pediatric Nephrology
Authors
- Floen, Miranda J., The University of Tennessee Health Science Center, Memphis, Tennessee, United States
- Nada, Arwa, The University of Tennessee Health Science Center, Memphis, Tennessee, United States
Introduction
Atypical hemolytic uremic syndrome (aHUS) is rare with an incidence of 0.26-0.75 cases/million/year for individuals less than 20 years of age. Little is known about the time course of the disease and its clinical episodes. Individuals typically harbor genetic mutations and/or complement autoantibodies.
Case Description
A 7 year-old male presented with 2 weeks history of fatigue, pallor, and emesis. laboratory findings were consistent with HUS; serum creatinine 1.35 mg/dL, hemoglobin 7.5 g/dL, and platelets 86 thou/mcL. Schistocytes were identified on peripheral smear. Stool culture was negative for O157 STEC. Stool PCR was positive for Shigella/Enteroinvasive E. coli. STEC-HUS was diagnosed. Patient was hemodialysis dependent. Given severity of his course and persistent evidence of hemolysis and thrombocytopenia at 5 weeks, Eculizumab was initiated with improvement of hematological parameters. laboratory workup was done at the same time and came back positive for homozygous deletion of CFHR3-CFHR1 and complement factor H (CFH) autoantibodies (2140 AU). Eculizumab was continued for 8 doses with additional 2 doses of Rituximab followed by Mycophenolate Mofetil (MMF) before transition to Ravulizumab which was discontinued after 7 doses. He remained on MMF with no evidence of relapse. He has continued to be off dialysis 11 months after cessation of Ravulizumab at CKD stage III.
Discussion
To our Knowledge, this is the first published pediatric case with CFH-autoantibodies that achieved partial kidney recovery after prolonged dialysis dependent course. aHUS should be considered in children with severe and prolonged course of HUS even if laboratory results are suggestive of STEC-HUS. Aggressive therapy should be considered even if patients are dialysis dependent as this may reverse the course of the disease. There is limited published data on the course and effect of complement blockade therapy (Eculizumab or Ravulizumab) and immunosuppression (Rituximab and MMF) on the course of aHUS due to CFH-autoantibodies. There are variable reports on the efficacy of other therapies, like plasmapheresis, on the course of this specific aHUS entity. Our case highlights the importance of considering these therapies in this population even after prolonged dialysis as this may alter the course of the disease and help kidney recovery.