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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 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.

SUBMITTER: Bahougne T

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

REPOSITORIES: biostudies-literature

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

Bahougne Thibault T Olagne Jérome J Munch Marion M Braun-Parvez Laura L Chenard Marie-Pierrette MP Frémeaux-Bacchi Véronique V Caillard Sophie S Baltzinger Philippe P Greget Michel M Kessler Laurence L Moulin Bruno B

BMC nephrology 20200919 1

<h4>Background</h4>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.<h4>Case presentation</h4>A 40-year-old man with brittle diabetes, who was included in the TRIMECO trial, became insulin-independent 2 months after pancreatic islet transplantatio ...[more]

PMID: 32950058

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Project description:To describe a case of atypical hemolytic uremic syndrome induced by influenza A infection with the p.Ile1157Thr C3 mutation.Data sourcesClinical observations of a patient.Study selectionCase reports.Data extractionData extracted from medical records, after patient's consent.Data synthesisFour days prior to presentation to our hospital, a 16-year-old adolescent had a fever and arthralgia with hematuria. He was found to be positive for type A influenza and prescribed oseltamivir and acetaminophen by a primary-care physician. A bleeding tendency and purpura in the extremities and on the trunk developed; therefore, he was transferred to Chiba University Hospital. Hematology revealed severe thrombocytopenia, hyperbilirubinemia, and acute kidney injury. Aspartate aminotransferase, lactate dehydrogenase, and potassium could not be determined because of severe hemolysis. Highly elevated blood urea nitrogen and creatinine levels indicated acute kidney injury. A platelet count of 24,000/μL indicated thrombocytopenia, with low hemoglobin level. Peripheral blood profiling identified schistocytes. Continuous hemodiafiltration and plasma infusion were initiated immediately; however, he became oliguric. Plasma exchange was initiated on ICU day 3, but decreased urine output, hemolysis, and thrombocytopenia persisted. IV eculizumab therapy was initiated on day 7 and resulted in recovery of these symptoms and also successful discontinuation of renal support. The patient showed a stable condition without recurrence of hemolytic findings and acute kidney injury and is currently on maintenance therapy of eculizumab (1,200 mg, every other week) without any relapse of atypical hemolytic uremic syndrome symptoms. A plasma sample collected prior to initiation of plasma exchange showed an disintegrin-like and metalloprotease with thrombospondin type 1 motifs 13 activity level of 104.9%. The absence of both Shiga toxin-producing Escherichia coli in feces led to suspicion of atypical hemolytic uremic syndrome. Subsequent genetic analysis identified a mutation in C3 (p.Ile1157Thr), confirming the diagnosis of atypical hemolytic uremic syndrome.ConclusionsAlthough managing thrombocytopenia secondary to infection, inclusion of atypical hemolytic uremic syndrome in the differential diagnosis at an early stage is important in clinical practice.

Dataset Information

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

Publications

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

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