Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN
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 recommenda...
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Elsevier
2024-12-01
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| Series: | Kidney International Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468024924019181 |
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| author | Aude Servais Miriam Zacchia Laurène Dehoux Rukshana Shroff Anais Brassier Roberta Taurisano Stefan Kölker Jun Oh Gema Ariceta Jelena Stojanovic Friederike Hörster Dello Strologo Marco Spada Manuel Schiff Carlo Dionisi-Vici |
| author_facet | Aude Servais Miriam Zacchia Laurène Dehoux Rukshana Shroff Anais Brassier Roberta Taurisano Stefan Kölker Jun Oh Gema Ariceta Jelena Stojanovic Friederike Hörster Dello Strologo Marco Spada Manuel Schiff Carlo Dionisi-Vici |
| author_sort | Aude Servais |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c10eb8c6b9c74b48a27c47c6eda08d71 |
| institution | OA Journals |
| issn | 2468-0249 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Kidney International Reports |
| spelling | doaj-art-c10eb8c6b9c74b48a27c47c6eda08d712025-08-20T02:05:52ZengElsevierKidney International Reports2468-02492024-12-019123362337410.1016/j.ekir.2024.09.002Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERNAude Servais0Miriam Zacchia1Laurène Dehoux2Rukshana Shroff3Anais Brassier4Roberta Taurisano5Stefan Kölker6Jun Oh7Gema Ariceta8Jelena Stojanovic9Friederike Hörster10Dello Strologo11Marco Spada12Manuel Schiff13Carlo Dionisi-Vici14Nephrology 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; Correspondence: Aude Servais, Nephrology and Transplantation Department, Hôpital Necker, 149 rue de Sèvres, 75015 Paris, France.Department of Medical and Translational Sciences, University of Campania, Luigi Vanvitelli, Naples, ItalyPediatric Nephrology Department, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, FranceInstitute of Child Health University College London, Great Ormond Street Hospital, NHS Foundation Trust, London, UKInherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, FranceDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyDivision of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, Heidelberg University, Medical Faculty, European Network for Hereditary Metabolic Disorders, Heidelberg, GermanyUniversity Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Pediatric Nephrology, Hospital Vall d'Hebron, Universitat Autonoma Barcelona, Barcelona, SpainInstitute of Child Health University College London, Great Ormond Street Hospital, NHS Foundation Trust, London, UKDivision of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, Heidelberg University, Medical Faculty, European Network for Hereditary Metabolic Disorders, Heidelberg, GermanyNephrology department, Bambino Gesù Children's Hospital IRCCS, Rome, ItalyDivision of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantation; Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyInherited Metabolic Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Université Paris Cité, Paris, FranceDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyMethylmalonic 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.http://www.sciencedirect.com/science/article/pii/S2468024924019181combined liver-kidney transplantationdaily dialysismethylmalonic acidemianeurotoxicity |
| spellingShingle | Aude Servais Miriam Zacchia Laurène Dehoux Rukshana Shroff Anais Brassier Roberta Taurisano Stefan Kölker Jun Oh Gema Ariceta Jelena Stojanovic Friederike Hörster Dello Strologo Marco Spada Manuel Schiff Carlo Dionisi-Vici Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN Kidney International Reports combined liver-kidney transplantation daily dialysis methylmalonic acidemia neurotoxicity |
| title | Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN |
| title_full | Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN |
| title_fullStr | Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN |
| title_full_unstemmed | Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN |
| title_short | Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN |
| title_sort | clinical practice recommendations on kidney management in methylmalonic acidemia an expert consensus statement from erknet and metabern |
| topic | combined liver-kidney transplantation daily dialysis methylmalonic acidemia neurotoxicity |
| url | http://www.sciencedirect.com/science/article/pii/S2468024924019181 |
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