Abstract: PO1827
Hemophagocytic Lymphohistiocytosis Presenting as Nephrotic Syndrome
Session Information
- Glomerular Diseases: IgA, C3G, and FSGS
October 22, 2020 | Location: On-Demand
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Report
- 1202 Glomerular Diseases: Immunology and Inflammation
Authors
- Quinn, Ghazal Z., University of Pennsylvania, Philadelphia, Pennsylvania, United States
- Triebwasser, Michael, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
- Teachey, David T., The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States
- Palmer, Matthew, University of Pennsylvania, Philadelphia, Pennsylvania, United States
- Geara, Abdallah Sassine, University of Pennsylvania, Philadelphia, Pennsylvania, United States
Introduction
Minimal change disease (MCD) is a podocytopathy resulting from systemic T cell dysfunction. Although frequently a primary disease, MCD can be secondary to immune dysregulation in malignancy or autoimmune disease. Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome of excess immune activation with poorly understood renal sequelae. Here, we report a rare case of HLH-induced podocyte injury resulting in MCD.
Case Description
A 25-year-old African American male with nine-month history of progressive edema presented with tachycardia, fever and anasarca. Initial evaluation confirmed the diagnosis of nephrotic syndrome with hypoalbuminemia (1.6 g/dl) and proteinuria (15 g/24-hour). Echocardiography showed a pericardial effusion with tamponade treated with pericardiocentesis. Additional testing showed sCr 0.8 mg/dl, hypertriglyceridemia (735 mg/dl), ferritin (817 ng/dl) and EBV viral load of 43,006 copies/ml.
Renal biopsy showed normal glomeruli by light microscopy with extensive foot process effacement on electron microscopy. A diagnosis of MCD was made. The patient was treated with steroids and cyclosporine.
The patient was readmitted six months later with intermittent fevers, edema, pancytopenia, ferritin >3000 ng/d, hypofibrinogenemia, hepatosplenomegaly and elevated soluble IL-2R. Bone marrow biopsy showed hemophagocytosis. EBV viremia persisted (362,318 copies/ml) and he was diagnosed with chronic active EBV infection with associated HLH. Genetic testing of 15 known HLH associated genes did not identify a pathogenic mutation.
HLH was treated with dexamethasone; rituximab was given once but stopped due to lack of CD19+ cells. HLH flared again during dexamethasone wean, prompting treatment with etoposide, then anakinra, without success. He achieved sufficient remission with IFN-gamma blockade with emapalumab-lzsg to undergo stem cell transplant. Three months after transplant, UPCR decreased from 20 g/g at HLH diagnosis to 1 g/g. His eGFR by cystatin C recovered to 46 ml/min/BSA from 10 ml/min/BSA prior to transplant.
Discussion
Virus-induced HLH can result in podocytopathy manifesting as MCD which can have serious sequelae including irreversible renal damage leading to chronic kidney disease, hypertriglyceridemia and pericardial effusion. This nephrotic syndrome can improve with treatment of HLH with immunosuppression or stem cell transplant.