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

Risultato della ricerca: Article

27 Citazioni (Scopus)

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

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Shiga-Toxigenic Escherichia coli
Hemolytic-Uremic Syndrome
Recurrence
Mutation
Genes
Transplants
Kidney
Kidney Transplantation
Chronic Kidney Failure
Complement Factor I
CD46 Antigens
Shiga Toxins
Shiga Toxin
Escherichia coli
Hemolytic Anemia
Genetic Testing
Coinfection
Acute Kidney Injury
Thrombocytopenia
Transplantation

All Science Journal Classification (ASJC) codes

  • Transplantation
  • Immunology and Allergy
  • Pharmacology (medical)

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Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. / Tripodo, Claudio; Piras; Noris, Marina; Valoti, Elisabetta; Alberti; Remuzzi, Giuseppe; Galbusera, Miriam; Bresin, Elena; Thaiss.

In: American Journal of Transplantation, Vol. 13, 2013, pag. 2201-2206.

Risultato della ricerca: Article

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, vol. 13, pagg. 2201-2206.
Tripodo, Claudio ; Piras ; Noris, Marina ; Valoti, Elisabetta ; Alberti ; Remuzzi, Giuseppe ; Galbusera, Miriam ; Bresin, Elena ; Thaiss. / Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. In: American Journal of Transplantation. 2013 ; Vol. 13. pagg. 2201-2206.
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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). {\circledC} Copyright 2013 The American Society of Transplantation and the American Society of Transplant Surgeons.",
author = "Claudio Tripodo and Piras and Marina Noris and Elisabetta Valoti and Alberti and Giuseppe Remuzzi and Miriam Galbusera and Elena Bresin and Thaiss",
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T1 - Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations

AU - Tripodo, Claudio

AU - Piras, null

AU - Noris, Marina

AU - Valoti, Elisabetta

AU - Alberti, null

AU - Remuzzi, Giuseppe

AU - Galbusera, Miriam

AU - Bresin, Elena

AU - Thaiss, null

PY - 2013

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N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10447/203486

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