Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations

Claudio Tripodo, Piras, Marina Noris, Elisabetta Valoti, Alberti, Giuseppe Remuzzi, Miriam Galbusera, Elena Bresin, Thaiss

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Abstract

Hemolytic uremic syndrome (HUS) is a disease of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. About 90% of cases are secondary to infections by Escherichia coli strains producing Shiga-like toxins (STEC-HUS), while 10% are associated with mutations in genes encoding proteins of complement system (aHUS). We describe two patients with a clinical history of STEC-HUS, who developed end-stage renal disease (ESRD) soon after disease onset. They received a kidney transplant but lost the graft for HUS recurrence, a complication more commonly observed in aHUS. Before planning a second renal transplantation, the two patients underwent genetic screening for aHUS-associated mutations that revealed the presence of a heterozygous CFI mutation in patient #1 and a heterozygous MCP mutation in patient #2, and also in her mother who donated the kidney. This finding argues that the two cases originally diagnosed as STEC-HUS had indeed aHUS triggered by STEC infection on a genetic background of impaired complement regulation. Complement gene sequencing should be performed before kidney transplantation in patients who developed ESRD following STEC-HUS since they may be undiagnosed cases of aHUS, at risk of posttransplant recurrence. Furthermore, genetic analysis of donors is mandatory before living-related transplantation to exclude carriers of HUS-predisposing mutations. Two patients with a clinical history of D+ hemolytic uremic syndrome associated with Shiga-toxin-producing 0157:H7 E. coli and recurrence in the kidney graft carry heterozygous mutations in the genes encoding complement factor I (patient 1) and membrane cofactor protein (patient 2). © Copyright 2013 The American Society of Transplantation and the American Society of Transplant Surgeons.
Lingua originaleEnglish
pagine (da-a)2201-2206
Numero di pagine6
RivistaAmerican Journal of Transplantation
Volume13
Stato di pubblicazionePublished - 2013

All Science Journal Classification (ASJC) codes

  • Transplantation
  • Immunology and Allergy
  • Pharmacology (medical)

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    Tripodo, C., Piras, Noris, M., Valoti, E., Alberti, Remuzzi, G., Galbusera, M., Bresin, E., & Thaiss (2013). Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. American Journal of Transplantation, 13, 2201-2206.