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Abstract: SA-PO095

Recurrent AKI for a Patient with Mutation in the MCP/CD46 Gene and Plasminogen Deficiency

Session Information

Category: Acute Kidney Injury

  • 101 AKI: Epidemiology, Risk Factors, and Prevention


  • Gudura, Tariku T., Cleveland Clinic, Cleveland, Ohio, United States
  • Baker, Melissa, Cleveland Clinic, Cleveland, Ohio, United States
  • Ferreira Provenzano, Laura, Cleveland Clinic, Cleveland, Ohio, United States
  • Herlitz, Leal C., Cleveland Clinic, Cleveland, Ohio, United States
  • Heyka, Robert J., Cleveland Clinic, Cleveland, Ohio, United States
  • Wang, Xiangling, Cleveland Clinic, Cleveland, Ohio, United States
  • Taliercio, Jonathan J., Cleveland Clinic, Cleveland, Ohio, United States

Complement-mediated thrombotic microangiopathy (CM-TMA) is a systemic disease characterized by hemolytic anemia, thrombocytopenia, and organ damage including acute kidney injury (AKI). Some causes of CM-TMA occur from dysregulation of complement proteins leading to loss of function in regulators and gain of function in effectors. Pathogenic gene variants of plasminogen, a component of the coagulation cascade, are thought to play role for CM-TMA. We present a case report of a patient with plasminogen deficiency and mutation in MCP/CD46 gene presenting with recurrent AKI.

Case Description

64 years old female patient with history of asthma, alopecia universalis and gout presented for evaluation of recurrent episodes of AKI. She reports around five episodes of AKI over 5 years. She required dialysis and steroids in two occasions with complete kidney recovery. Her symptoms start with nausea, vomiting and flank pain followed by gross hematuria. Past work up was notable for thrombocytopenia, elevated D-dimer and AKI. Kidney biopsies obtained in 2016 and 2019 revealed acute tubular injury without signs of thrombotic microangiopathy (TMA). During her most recent episode, she presented with similar symptoms. Labs showed Hgb 10.9 g/dl, platelet 78.1 K/uL (150 - 400), D dimer >35,200 ng/ml (< 500), creatinine of 4.9 mg/dl (0.6 - 1), LDH of 3417 U/L (135 - 214), haptoglobin < 10mg/dl (31 - 238), plasminogen Assay 52% (69 - 137), plasminogen antigen 6.2 mg/dl (7.5 -15.5), schistocytes on peripheral smear, norma ADAMT-13 and unrevealing bone marrow. Genetic testing showed a variant in MCP/CD46 gene and a variant in plasminogen. She was treated with steroids, fresh frozen plasma and IVIG for 3 days, and discharged on tapered dose steroids for a month. On subsequent follow up, her kidney recovered within a month.


The exact interplay between individual coagulation factors and complement system is not well understood. Plasmin has been shown to have some inhibitory role on complement mediated hemolysis. Pathogenic variants of the coagulation proteins such as plasminogen is found to play a role in CM-TMA such as atypical hemolytic uremic syndrome. In this case, plasminogen deficiency is likely contributing to TMA from MCP/CD46 mutation warranting further studies for better understating.