Sistema de Salut de Catalunya
Institut Català de la Salut
[Servais A] Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Inserm U1163, Imagine Institute, Université de Paris, Paris, France. [Zacchia M] Department of Medical and Translational Sciences, University of Campania, Luigi Vanvitelli, Naples, Italy. [Dehoux L] Pediatric Nephrology Department, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France. [Shroff R] Institute of Child Health University College London, Great Ormond Street Hospital, NHS Foundation Trust, London, UK. [Brassier A] Inherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, France. [Taurisano R] Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma Barcelona, Bellaterra, Spain
Vall d'Hebron Barcelona Hospital Campus
2025-01-16T11:05:22Z
2025-01-16T11:05:22Z
2024-12
Combined liver-kidney transplantation; Daily dialysis; Methylmalonic acidemia
Trasplante combinado de hígado y riñón; Diálisis diaria; Acidemia metilmalónica
Trasplantament combinat de fetge i ronyó; Diàlisi diària; Acidèmia metilmalònica
Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complication, leading to kidney failure, dialysis, and kidney transplantation (KT). The objective of these guidelines was to develop clinical practice recommendations focusing on specific aspects of the kidney management of this disease. Development of these clinical practice recommendations is an initiative of the European Reference Network for Rare Kidney Diseases in collaboration with the European Reference Network for Hereditary Metabolic Disorders and included pediatric and adult nephrologists, metabolic specialists, as well as liver and kidney transplant specialists. CKD has become a significant clinical issue that requires specific follow-up in both pediatric and adult departments. Creatinine-based formulae significantly overestimate kidney function and the estimation of estimated glomerular filtration rate (eGFR) is more accurate using cystatin C. Besides usual kidney indications, acute dialysis may be required in emergency in case of acute metabolic decompensation to clear metabolic toxins. Long-term dialysis may be initiated for clearance of toxic metabolites. Long hours on hemodialysis (HD) and/or daily dialysis are required. The indications for transplantation in MMA are a high rate of metabolic decompensations, a high burden of disease and difficult metabolic control. Transplantation is also indicated in case of long-term complications. Combined liver-kidney transplantation (LKT) should be preferred in patients with MMA with CKD. Possible calcineurin inhibitors (CNIs) induced neurotoxicity was described in patients with MMA requiring immunosuppressive treatment monitoring and adaptation. Overall, 13 statements were produced to provide guidance on the management of CKD, dialysis, and transplantation in pediatric and adult patients with MMA.
This project was supported by the European Reference Network (ERN) for Rare Kidney Diseases (ERKNet) and Hereditary Metabolic Disorders (MetabERN), both funded by the European Union within the framework of the EU4Health Programme (101085068).
Article
Published version
English
Fetge - Trasplantació; Diàlisi; Insuficiència renal crònica - Tractament; Metabolisme, Errors congènits del - Tractament; Decisió de grup; DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Insufficiency::Renal Insufficiency, Chronic; DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors; Other subheadings::Other subheadings::/therapy; PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Sorption Detoxification::Renal Dialysis; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Surgical Procedures, Operative::Digestive System Surgical Procedures::Surgical Procedures, Operative::Surgical Procedures, Operative::Liver Transplantation; ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::insuficiencia renal::insuficiencia renal crónica; ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos; Otros calificadores::Otros calificadores::/terapia; PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::psicología social::procesos de grupo::consenso; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::desintoxicación por adsorción::diálisis renal; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::intervenciones quirúrgicas::procedimientos quirúrgicos del sistema digestivo::intervenciones quirúrgicas::intervenciones quirúrgicas::trasplante de hígado
Elsevier
Kidney International Reports;9(12)
https://doi.org/10.1016/j.ekir.2024.09.002
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
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