Atypical hemolytic and uremic syndrome due to C3 mutation in pancreatic islet transplantation: a case report
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CASE REPORT
Open Access
Atypical hemolytic and uremic syndrome due to C3 mutation in pancreatic islet transplantation: a case report Thibault Bahougne1,2* , Jérome Olagne3, Marion Munch1, Laura Braun-Parvez3, Marie-Pierrette Chenard4, Véronique Frémeaux-Bacchi5,6, Sophie Caillard3, Philippe Baltzinger1, Michel Greget7, Laurence Kessler1,8 and Bruno Moulin3
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 had defective Factor I proteolytic activity with membrane proteins as cofactor proteins, which was thus classified as pathogenic. About 1 year after the aHUS episode, kidney transplantation was carried out under the protection of the specific anti-C5 monoclonal antibody eculizumab. The patient had normal kidney function, with preserved pancreatic islet function 4 years later. Conclusions: Pancreatic islet transplantation could have triggered this aHUS episode, but this link needs to be clarified. Although prophylactic eculizumab maintains kidney allograft function, its efficacy still needs to be studied in larger populations. Keywords: Atypical hemolytic and uremic syndrome, Complement C3, Islets of Langerhans transplantation, Case report
* Correspondence: [email protected] 1 Service d’Endocrinologie, Diabète et Nutrition, Hôpitaux Universitaires de Strasbourg, 1 Place de L’Hôpital, F-67000 Strasbourg, France 2 Institut des Neurosciences Cellulaires et Intégratives, CNRS (UPR 3212), Strasbourg, France Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence,
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