Premium
Post‐transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation
Author(s) -
Sinibaldi Serena,
Guzzo Isabella,
Piras Rossella,
Bresin Elena,
Emma Francesco,
Dello Strologo Luca
Publication year - 2013
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.12151
Subject(s) - eculizumab , atypical hemolytic uremic syndrome , medicine , transplantation , immunology , complement system , hemolytic anemia , mutation , disease , complement factor i , antibody , gastroenterology , gene , biology , genetics
HUS is characterized by hemolytic anemia, thrombocytopenia, and acute renal failure. While “typical” HUS is usually associated with S higa toxin‐producing E scherichia coli infections and recovers in the majority of cases, a HUS is caused by mutations of complement components or antibodies against CFH leading to uncontrolled activation of alternative complement pathway and often to ESRD . Recently, THBD gene mutations have been reported in a HUS . Theoretically, the risk of disease recurrence after renal transplantation should be low because THBD is primarily a membrane‐bound protein expressed by endothelial cells; however, a small proportion of THBD is present as a soluble form in plasma. We report the case of a 19‐yr‐old man with a HUS secondary to a THBD mutation that relapsed twice after two renal transplantations performed 12 yr apart. Despite successful control of HUS with plasma exchange and eculizumab after the second transplantation, the graft was ultimately lost due to severe steroid‐resistant cellular rejection. The present report suggests that THBD mutations may favor‐relapse of a HUS after renal transplantation.