ASN's Mission

ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

learn more

Contact ASN

1401 H St, NW, Ste 900, Washington, DC 20005

email@asn-online.org

202-640-4660

The Latest on Twitter

Kidney Week

Abstract: FR-PO678

Heavy Chain Deposition Disease Unmasked After Treatment of Sjogren Syndrome-Associated Glomerular Disease

Session Information

Category: Trainee Case Report

  • 1500 Onco-Nephrology

Authors

  • Parikh, Rushang, Zucker School of Medicine at Hofstra/Northwell, NY, Manhasset, New York, United States
  • Andrade paz, Hugo, Zucker School of Medicine at Hofstra/Northwell, NY, Manhasset, New York, United States
  • Hazzan, Azzour, Zucker School of Medicine at Hofstra/Northwell, NY, Manhasset, New York, United States
  • Ross, Daniel W., Zucker School of Medicine at Hofstra/Northwell, NY, Manhasset, New York, United States
  • Seshan, Surya V., Weill Cornell Medical Center, New York, New York, United States
  • Jhaveri, Kenar D., Zucker School of Medicine at Hofstra/Northwell, NY, Manhasset, New York, United States
  • Bijol, Vanesa, Northwell Health, Manhasset, New York, United States
Introduction

Diagnosis of heavy chain deposition disease (HCDD) is often challenging. We present a case of a patient who had 2 kidney biopsies and treatment of one disease unmasked the diagnosis of HCDD.

Case Description

A 69 year old female was diagnosed with smoldering myeloma (IgG-lambda clone). Treatment was not planned. She was also recently diagnosed with Sjorgen syndrome. Few weeks later, she presented with AKI with Scr of 1.4mg/dl( baseline of 1mg/dl) and proteinuria (4gm/24hours). Serology showed positive ANA, positive SS-A antibody, antidsDNA, low C3 and C4 levels. A kidney biopsy confirmed MPGN pattern with diffuse nodular sclerosis having polyclonal IgG and IgM lambda deposits, and EM showing focal organized deposits. There was also a diffuse interstitial lymphoplasmacytic infiltrate. Based on the IF findings, the diagnosis of mixed cryoglobulinemia-associated GN was made, but a paraproteinemia related disease could not be ruled out. A Hepatitis C PCR was negative. Since the kidney disease was related to rheumatologic findings, steroids were initiated. Despite steroids, her creatinine worsened over 6 weeks and proteinuria increased to over 8gm/24 hours. A repeat kidney biopsy was diagnostic for gamma-3 heavy chain deposition disease, with a nodular sclerosing glomerulonephritis and strong (4+) IgG and C1q reactivity in the mesangium and along glomerular and tubular basement membranes; no significant reactivity for kappa and lambda light chains or C3 was noted on routine IF microscopy. IgG subclass staining showed strong (4+) gamma-3 reactivity, in the same areas corresponding to the IgG staining. Electron microscopy reveals diffuse powdery deposits along all the basement membranes and in the mesangium, supporting the diagnosis of HCDD. The steroid treatment might have unmasked the underlying HCDD, following resolution of the autoimmune mediated renal lesions. A repeat bone marrow showed no change in percent of plasma cells. Regardless, she was started on bortezomib based therapy. Four months later, she still remains dialysis dependent.

Discussion

Diagnosis of HCDD is challenging. In this case, the initial pathology of an autoimmune process causing kidney disease masked a chronic HCDD related kidney disease. High index of suspicion is required for diagnosis of HCDD. Prognosis remains guarded.