Atypical hemolytic and uremic syndrome due to C3 mutation in pancreatic islet transplantation: a case report.

ABSTRACT:

Background

We here report on the first observation of a C3 mutation that is related to atypical hemolytic and uremic syndrome (aHUS), which occurred in a pancreatic islet transplant patient. Immunosuppressive treatments, such as calcineurin inhibitors, have been linked to undesirable effects like nephrotoxicity.

Case presentation

A 40-year-old man with brittle diabetes, who was included in the TRIMECO trial, became insulin-independent 2 months after pancreatic islet transplantation. About 15 months after islet transplantation, the patient exhibited acute kidney injury due to aHUS. Despite plasma exchange and eculizumab treatment, the patient developed end-stage renal disease. A genetic workup identified a missense variant (p.R592Q) in the C3 gene. In vitro, this C3 variant h

SUBMITTER: Bahougne T 

PROVIDER: S-EPMC7501718 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature