Abstract: SA-PO219
What Lies in-Between: A Case of C3 Glomerulopathy with Non-Hemolytic Renal Microangiopathy and a Unique C3 Variant
Session Information
- Trainee Case Reports - V
October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Reports
- 1202 Glomerular Diseases: Immunology and Inflammation
Authors
- Jandal, Ali D., University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States
- Zhong, Weixiong, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States
- Waheed, Sana, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States
- Bhutani, Gauri, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, United States
Introduction
A difference in location of alternate pathway dysregulation is thought to be the cause of the distinct clinical disorders of C3 glomerulopathy (C3G) and atypical hemolytic uremic syndrome (aHUS).
Case Description
A 36 year-old female with history of prior alcohol abuse presented with abdomen pain, nausea, and vomiting for one day prior to admission. Serum creatinine (S.Cr) was 2.6 mg/dL (unclear baseline) and serum lipase was 445 U/L. Urinalysis showed hematuria and urine protein-creatinine ratio (UPC) was 6.35 g/g. Her pancreatitis was managed conservatively. Pain improved but S.Cr reached 7.5 mg/dL by hospital day (HD) #5 - a kidney biopsy was performed and pulse dose steroids were initiated.
[Fig1] A membranoproliferative glomerulonephritis with focal crescents and positive C3 was found. Severe diffuse endothelial swelling and small amounts of electron dense deposits were seen on electron microscopy.
No hemolysis was detected but plasmapheresis (PP) was started due to worsening S.Cr. Renal function improved; patient was discharged on steroids and cyclophosphamide as eculizumab was not approved by insurance. Complement genetic testing revealed a unique variant in 1 allele of C3 gene and a heterozygous deletion of CFHR3-CFHR1. Now, two months later, patient is readmitted with recurrence of her renal syndrome and pancreatitis.
Discussion
Endothelial damage, recurrent pancreatitis and response to PP are features of aHUS. These, together with a C3 positive crescentic glomerulonephritis, sparse deposits and a unique C3 genetic variant strongly suggest the possibility of a syndrome with overlap between C3G and aHUS.