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Kidney Week

Abstract: PO2317

Rare Presentation of Nephrotic Syndrome in 10-Year-Old Male

Session Information

Category: Trainee Case Report

  • 1700 Pediatric Nephrology

Authors

  • Cody, Ellen, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
  • Vandenheuvel, Katherine A., Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
  • Mitsnefes, Mark, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States
Introduction

Review nephrotic syndrome 2/2 amyloidosis due to genetic mutation

Case Description

10 year male w/ mild proteinuria, progressed to UPC of 4mg/mg over months, Cr 0.4, alb 2.5. Got strep, treated w/ amoxicillin & motrin, after 3 days developed periorbital edema, poor PO, fatigue, admitted. Labs Cr 4.1, alb 1.1, UPC 31 mg/mg, no blood. RUS b/l enlarged, echogenic kidneys. Biopsy w/ glomeruli expanded by amorphous, acellular proteinacous material in mesangium, walls of arteries and arterioles (Image 1), congophilic on Congo red stain (Image 2), apple green on light birefringence, & tubular injury, final read: amyloidosis and AIN. Completed 3 days of IV steroids for AIN, started colchicine for amyloidosis. Genetics w/ pathogenic Cys59Arg variant of TNFRSf1A, c/w TNF Receptor-Associated Periodic Syndrome (TRAPS). Started canakinumab, human monoclonal anti-IL-1 Ab. After 3 months, Cr baseline, no edema, still nephrotic range proteinuria, low alb. MOC w/ ESRD as teen, required dialysis, transplant. Later both kidney and liver failure, died at 31. Diagnosed w/ Familial Mediterranean Fever, as was MGF.

Discussion

Autoinflammatory disease usually presents as intermittent fever, abdominal & joint pain. Second most common is renal involvement, which starts w/ proteinuria, progresses to nephrotic syndrome, renal dysfunction. Diagnosis of amyloidosis based on amyloid fibrils in biopsy of involved tissue, stain positive w/ congo red, apple green birefringence to polarized light. No clear relationship between extent of amyloid deposition & severity of clinical manifestations of renal disease. TRAPS treated w/ directed therapy (IL-1 inhibitor), but difficult to track response to therapy as serum amyloid A not available. Use inflammatory markers (i.e. CRP) given autoinflammatory syndrome.