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

Autor: Marie-Pierrette Chenard, Philippe Baltzinger, Laura Braun-Parvez, M. Greget, Sophie Caillard, Jérôme Olagne, Bruno Moulin, Véronique Frémeaux-Bacchi, Thibault Bahougne, Marion Munch, Laurence Kessler
Přispěvatelé: Les Hôpitaux Universitaires de Strasbourg (HUS), Institut des Neurosciences Cellulaires et Intégratives (INCI), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Nouvel Hôpital Civil de Strasbourg, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Université de Paris (UP), Nanomédecine Régénérative (NanoRegMed), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Rok vydání: 2020
Předmět:
Adult
Male
Nephrology
medicine.medical_specialty
[SDV]Life Sciences [q-bio]
Mutation
Missense
030232 urology & nephrology
030230 surgery
lcsh:RC870-923
Gastroenterology
Islets of Langerhans
03 medical and health sciences
0302 clinical medicine
Internal medicine
Case report
medicine
Humans
Pancreatic islet function
Kidney transplantation
Atypical Hemolytic Uremic Syndrome
geography
geography.geographical_feature_category
business.industry
Acute kidney injury
Complement C3
Acute Kidney Injury
Eculizumab
lcsh:Diseases of the genitourinary system. Urology
medicine.disease
Islet
Kidney Transplantation
3. Good health
Transplantation
Diabetes Mellitus
Type 1
Atypical hemolytic and uremic syndrome
Kidney Failure
Chronic
Islets of Langerhans transplantation
Pancreatic islet transplantation
business
medicine.drug
Zdroj: BMC Nephrology
BMC Nephrology, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Nephrology, BioMed Central, 2020, 21 (1), pp.405. ⟨10.1186/s12882-020-02062-7⟩
ISSN: 1471-2369
DOI: 10.1186/s12882-020-02062-7
Popis: 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.
Databáze: OpenAIRE
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