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Kidney Week

Abstract: PO0292

Atypical Hemolytic Uremic Syndrome: A Case Report

Session Information

Category: Acute Kidney Injury

  • 102 AKI: Clinical, Outcomes, and Trials

Authors

  • Gopisetti, Neethu, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States
  • Angamuthu, Akilandanayaki, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States
  • Batool, Fatima, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States
  • Chewaproug, Daranee, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States
  • Dissanayake, Imara, Albert Einstein Medical Center, Philadelphia, Pennsylvania, United States
Introduction

Thrombotic microangiopathy is a pathological condition comprised of microvascular thrombosis involving any organ of the body leading to thrombocytopenia, Coombs-negative hemolytic anemia, and end-organ damage. The most common forms of thrombotic microangiopathies are Shiga toxin-producing Escherichia coli mediated hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome. The atypical hemolytic uremic syndrome occurs due to genetic and acquired mutations in complement regulatory factors and to complement activation factors in the immune system, mainly the alternative pathway. Clinical manifestations and outcomes differ with the prevalent mutations of the patient. Currently, available treatment modalities are therapeutic plasma exchange and a monoclonal antibody against C5, eculizumab.

Case Description

43-Year-Old African American female with past medical history hypertension and Diabetes presented with 2-day history of altered mental status. On presentation, she has BP 264/133. Her blood investigations showed acute kidney disease, thrombocytopenia, hemolytic anemia with negative Coombs's test. Coagulation profile was normal. Schistocytes were noted on peripheral smear. Received plasmapheresis for concern of Thrombotic thrombocytopenic purpura with no clinical improvement. Initiated on hemodialysis. Adams TS 13 level returned at 27%, ruling out Thrombotic thrombocytopenic purpura. Genetic complement testing was sent on the patient and was initiated eculizumab for presumed Atypical hemolytic uremic syndrome. After giving eculizumab patient's mental status improved and recovered renal function, came off dialysis. Genetic complement testing is negative however, next generation sequencing revealed no coverage for the CFHAI and’ CFHRS genes which may be a risk factor for FH autoantibody development and needs further testing

Discussion

Conclusion: The atypical hemolytic uremic syndrome is a rare disease entity requiring a high index of suspicion to diagnose. It is a diagnosis of exclusion. Early diagnosis with prompt treatment will render a better outcome. The atypical hemolytic uremic syndrome needs to be considered in all patients with thrombotic microangiopathy.

Brocklebank V etal, Thrombotic microangiopathy and the kidney. Clin J Am Soc Nephrol. 2018;13(2):300–17