Abstract: TH-PO509
Atypical Hemolytic Uremic Syndrome with Peripheral Gangrene
Session Information
- Genetic Kidney Diseases: Genotypes and Phenotypes in Cases
October 24, 2024 | Location: Exhibit Hall, 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
- Aierken, Ailima, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
- Muhetaer, Gulimire, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
- Yang, Shufen, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
- Zhuang, Jing, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
- Jiang, Hong, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, Xinjiang, China
- Tian, Xuefei, Yale University School of Medicine, New Haven, Connecticut, United States
Introduction
Atypical hemolytic uremic syndrome (aHUS) is a form of complement-mediated thrombotic microangiopathy (TMA). The clinical symptoms of aHUS can involve multiple organ systems. Few aHUS case reports describe peripheral vascular manifestations.
Case Description
A 27-year-old Chinese male was admitted to the hospital with acute renal failure and thrombocytopenia following a fever. Blood pressure was 145/85 mmHg, with 2.5% peripheral broken red blood cells, LDH at 1024 U/L and normal ADAMTS13 activity . He was diagnosed with TMA. Received hemodialysis, plasma exchange , Rituximab and glucocorticoid therapy. The kidney biopsy revealed TMA. After treatment, he was discharged from dialysis. After 1 month he recurrenced of TMA, began maintenance hemodialysis. After 1 year, exposure to cold weather, the fingertips of his right hand turned cyanotic and painful. The symptoms gradually worsened, leading to necrosis. Laboratory results showed normal platelets, no broken red blood cells, low C3, LDH at 308 U/L, and normal ADAMTS13 activity. Within 3 weeks, the right hand progressed to gangrenous. He has a family history, with two uncles died of kidney failure at around 25 years old. Whole-exome genetic testing revealed a C3 gene mutation (C3: c.640C > T, p.P214S), which destabilized the overall spatial structure of the protein. We confirmed the diagnosis of aHUS. Eculizumab treatment was initiated, and the affected finger was amputated. Biopsy of the vascular tissue during surgery revealed intravascular thrombosis. After starting eculizumab, the patient's pain decreased, perfusion near the gangrene area improved.
Discussion
We describe a case of skin involvement associated with C3-associated aHUS, demonstrating that aHUS can affect small peripheral vessels. This case highlights that aHUS lesions can be attributed to TMA, even if TMA may not be fully evident in laboratory tests. The skin gangrene, responded well to eculizumab.