2026-04-13T01:28:26Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/124232025-10-24T10:38:47Zcom_2072_378070com_2072_378040col_2072_378092
RECERCAT
author
Servais, Aude
author
Zacchia, Miriam
author
Dehoux, Laurène
author
Shroff, Rukshana
author
Brassier, Anais
author
Taurisano, Roberta
author
Ariceta Iraola, Gema
2025-10-24T10:38:47Z
2025-10-24T10:38:47Z
2025-01-16T11:05:22Z2025-01-16T11:05:22Z2024-12
http://hdl.handle.net/11351/12423
Combined liver-kidney transplantation; Daily dialysis; Methylmalonic acidemiaTrasplante combinado de hígado y riñón; Diálisis diaria; Acidemia metilmalónicaTrasplantament combinat de fetge i ronyó; Diàlisi diària; Acidèmia metilmalònicaMethylmalonic 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).
Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
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
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion