2026-04-17T13:23:47Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/124232025-10-24T10:38:47Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Servais, Aude author Zacchia, Miriam author Dehoux, Laurène author Shroff, Rukshana author Brassier, Anais author Taurisano, Roberta author Ariceta Iraola, Gema author 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). http://hdl.handle.net/11351/12423 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 Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN