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Case Report: Combined Liver-Kidney Transplantation to Correct a Mutation in Complement Factor B in an Atypical Hemolytic Uremic Syndrome Patient.
López-Trascasa, Margarita; Alonso-Melgar, Ángel; Melgosa-Hijosa, Marta; Espinosa-Román, Laura; Lledín-Barbancho, María Dolores; García-Fernández, Eugenia; Rodríguez de Córdoba, Santiago; Sánchez-Corral, Pilar.
Afiliación
  • López-Trascasa M; Departamento de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.
  • Alonso-Melgar Á; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.
  • Melgosa-Hijosa M; Pediatric Nephrology Service, La Paz University Hospital, Madrid, Spain.
  • Espinosa-Román L; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.
  • Lledín-Barbancho MD; Pediatric Nephrology Service, La Paz University Hospital, Madrid, Spain.
  • García-Fernández E; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.
  • Rodríguez de Córdoba S; Pediatric Nephrology Service, La Paz University Hospital, Madrid, Spain.
  • Sánchez-Corral P; Pediatric Hepatology Service, La Paz University Hospital, Madrid, Spain.
Front Immunol ; 12: 751093, 2021.
Article en En | MEDLINE | ID: mdl-34721423
Pathogenic gain-of-function variants in complement Factor B were identified as causative of atypical Hemolytic Uremic syndrome (aHUS) in 2007. These mutations generate a reduction on the plasma levels of complement C3. A four-month-old boy was diagnosed with hypocomplementemic aHUS in May 2000, and he suffered seven recurrences during the following three years. He developed a severe hypertension which required 6 anti-hypertensive drugs and presented acrocyanosis and several confusional episodes. Plasma infusion or exchange, and immunosuppressive treatments did not improve the clinical evolution, and the patient developed end-stage renal disease at the age of 3 years. Hypertension and vascular symptoms persisted while he was on peritoneal dialysis or hemodialysis, as well as after bilateral nephrectomy. C3 levels remained low, while C4 levels were normal. In 2005, a heterozygous gain-of-function mutation in Factor B (K323E) was found. A combined liver and kidney transplantation (CLKT) was performed in March 2009, since there was not any therapy for complement inhibition in these patients. Kidney and liver functions normalized in the first two weeks, and the C3/C4 ratio immediately after transplantation, indicating that the C3 activation has been corrected. After remaining stable for 4 years, the patient suffered a B-cell non-Hodgkin lymphoma that was cured by chemotherapy and reduction of immunosuppressive drugs. Signs of liver rejection with cholangitis were observed a few months later, and a second liver graft was done 11 years after the CLKT. One year later, the patient maintains normal kidney and liver functions, also C3 and C4 levels are within the normal range. The 12-year follow-up of the patient reveals that, in spite of severe complications, CLKT was an acceptable therapeutic option for this aHUS patient.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor B del Complemento / Trasplante de Riñón / Trasplante de Hígado / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article País de afiliación: España

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor B del Complemento / Trasplante de Riñón / Trasplante de Hígado / Síndrome Hemolítico Urémico Atípico Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Front Immunol Año: 2021 Tipo del documento: Article País de afiliación: España
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