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Abstract: SA-PO846

A Case of Heavy Chain Deposition Disease

Session Information

Category: Glomerular Diseases

  • 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics

Authors

  • Teferici, Stela, Elmhurst Hospital - Main Campus, Elmhurst, New York, United States
  • Stern, Aaron S., Elmhurst Hospital - Main Campus, Elmhurst, New York, United States
  • Munoz Casablanca, Nitzy N., Elmhurst Hospital - Main Campus, Elmhurst, New York, United States
Introduction

Monoclonal Immune Deposition Disease (MIDD) is a rare manifestation of monoclonal gammopathy of renal significance, with non-organized deposition of monoclonal proteins in the glomerulus. Deposition that only involves the heavy chain portion of a monoclonal immunoglobin is even rarer. We present a case of Heavy Chain Deposition Disease (HCDD).

Case Description

A 61-year-old female was referred to our clinic for edema and nephrotic syndrome. She had facial and pedal edema, hypoalbuminemia and a Urine Protein/Creatinine Ratio of 4. Further work-up revealed antinuclear antibody: 1: 320, Complement 3: 72mg/dL (mildly low), Complement 4: 32mg/dL (normal), Serum protein electrophoresis (SPEP) had a weak gamma paraprotein, Immunofixation electrophoresis (IFE) was positive for immunoglobulin G (IgG) kappa. Serum free light chain kappa (Κ)/lambda (λ) ratio was 9.1. Renal biopsy showed a pronounced nodular mesangial appearance on light microscopy. Congo-red staining was negative. Immunofluorescence showed deposits composed of IgG along glomerular, tubular, and basement membranes, with negative staining for Κ and λ light chains, findings consistent with HCDD. The heavy chain subclass was not performed. Electron Microscopy revealed a powdery appearing deposition in the basement membrane.

Discussion

In elderly patients with nephrotic syndrome, diabetes and amyloidosis are common culprits. Our case supported this suspicion with a positive SPEP, IFE, and free light chain assay. However, while the kidney biopsy showed a nodular sclerosis pattern suggestive of amyloidosis, further analysis with staining and immunofluorescence revealed a rarer diagnosis: heavy chain deposition disease (HCDD) associated with a paraproteinemia. On review of the previously reported cases of HCDD, common clinical presentations include nephrotic syndrome, renal insufficiency, hematuria, and, in some cases, hypocomplementemia. Hematologic workup to assess for a plasma cell dyscrasia is ongoing.