title: Posttransplant outcome of atypical haemolytic uraemic syndrome in a patient with thrombomodulin mutation: a case without recurrence.
abstract: Atypical haemolytic uraemic syndrome (aHUS) is a rare disease characterized by thrombocytopenia, microangiopathic haemolytic anaemia and renal impairment. Mutations in genes encoding inhibitors of the alternative pathway of the complement system are involved in ∼50% of the cases. Thrombomodulin (THBD) gene mutations occur in ∼3-5% of the cases. The risk of aHUS recurrence after kidney transplantation depends on the complement abnormality involved. In all three cases of THBD mutation reported to date, aHUS recurred after kidney transplantation (KT) with early graft loss. No data exist about therapeutic approaches before kidney transplantation to reduce the risk of recurrence in patients carrying this mutation. Favourable data on the use of eculizumab have been reported, in terms of plasmatherapy withdrawal and renal function recovery in aHUS recurrence after KT. To our knowledge, this case report presents the first case of successful kidney transplantation in a patient with aHUS due to THBD mutation who was treated with a single plasma-exchange immediately before surgery without recurrence of the disease 12 months after transplantation.
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Caroti
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Di Maria
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Carta
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Luciano
authors.initials: L
authors.lastname: Moscarelli
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Calogero
authors.initials: C
authors.lastname: Cirami
authors.affiliation: Nephrology Unit , Careggi University Hospital , Florence , Italy.
authors.forename: Enrico Eugenio
authors.initials: EE
authors.lastname: Minetti
keywords: atypical haemolytic uraemic syndrome; kidney transplantation; thrombomodulin mutation