Abstract: SA-PO798
Primary Atypical Hemolytic Uremic Syndrome Presenting with Raynaud Phenomenon Triggered by COVID-19
Session Information
- Genetic Diseases: Glomerulopathies - II
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- El Sharu, Husam, East Carolina University Brody School of Medicine, Greenville, North Carolina, United States
- Kavcar, Akil Serdar, East Carolina University Brody School of Medicine, Greenville, North Carolina, United States
- Lee, Tiffany, Eastern Nephrology Associates PLLC, Greenville, North Carolina, United States
- Grey, Richard Kyle, Eastern Nephrology Associates PLLC, Greenville, North Carolina, United States
- Provenzano, Anthony, Eastern Nephrology Associates PLLC, Greenville, North Carolina, United States
Introduction
COVID-19 has been linked to atypical hemolytic uremic syndrome (aHUS), although skin manifestations are rarely reported.
Case Description
A 48-year-old female with Mixed connective tissue disease (MCTD) presented after COVID-19 with Raynaud's phenomenon. Blood film showed schistocytes, ADAMTS13 level was 45%, before PLEX therapy. Labs (Coombs, antiphospholipid, CH50, hepatitis, HIV) were unremarkable but she had a positive RNP antibody and ANA with a titer of 1:320. Renal biopsy showed thrombotic microangiopathy and 20% interstitial fibrosis. Genetic testing revealed a heterozygous MCP/CD46 gene mutation. She needed 2 months of hemodialysis, but symptoms, platelets, and creatinine improved with ravulizumab initiation.
Discussion
Our case highlights skin involvement in primary genetic aHUS and the potential association between MCP/CD46 gene mutation and MCTD, which is rarely reported.
Results
| Hemoglobin (mg/dL) | 11 |
| Platelets (mcL) | 20 |
| Creatinine (mg/dL) | 8.44 |
| Blood Urea Nitrogen (mg/dL) | 84 |
| Haptoglobin (mg/dL) | 22 |
| Lactate dehydrogenase (U/L) | 5000 |
Raynaud's Phenomenon
A Global fibrin thrombus
B Acute tubular necrosis
C Segmental sclerosis, adhesions, and GBM corrugation
D Mesangiolysis and increased lamina rara interna.