Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
Rattachement africain : gb, it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long-term complications, such as optic neuropathy, pancreatic involvement, developmental disability, and similar management approaches, but they also represent distinct clinical and biochemical entities. In the severe forms of PA and MMA, most long-term complications cannot be prevented with conventional clinical management. Organ transplantation represents a form of partial enzyme replacement to improve the long-term outlook for these disorders. There is evidence that early liver transplant in both disorders greatly improves metabolic stability and reduces the risk of long-term complications. For MMA, early liver transplant reduces methylmalonic acid levels which in turns reduces its effects on kidneys, and therefore slows progression of chronic kidney disease. However, established organ damage cannot be reversed. For patients with MMA who present with chronic kidney disease, consideration should be given for combined liver and kidney transplants. Transplantation in PA and MMA carries a high risk of complications and requires highly specialised pre-operative and peri-operative management. Involvement of a multidisciplinary team is essential and should include metabolic team, nephrologist, hepatologist, hepatobiliary and renal transplant surgeons, anaesthesiologists, cardiologists, intensive care team, dieticians and specialist nurses. These patients require life-long multidisciplinary follow-up. There is increasing evidence in the literature on excellent short to medium-term patient and allograft survival following transplantation when patients are managed by a multidisciplinary team in a specialist centre. Improved early diagnosis and reductions in transplant-related mortality and morbidity have allowed early transplantation to be used electively to further improve the outcome.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria
- Date Crossref
- 24/04/2023
- Éditeur
- Wiley
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University College Hospital pays non établi dans la noticeÉtablissement de santé
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Great Ormond Street Hospital for Children NHS Foundation Trust Department of Paediatric Nephrology and Transplantation pays non établi dans la noticeÉtablissement de santé
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University College London pays non établi dans la noticeUniversité ou école supérieure
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St Thomas' Hospital pays non établi dans la noticeÉtablissement de santé
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Evelina London Children's Healthcare pays non établi dans la noticeÉtablissement de santé
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Bambino Gesù Children's Hospital pays non établi dans la noticeÉtablissement de santé
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Department of Metabolic Medicine Great Ormond Street Hospital NHS Foundation Trust London UK Department of Metabolic Medicine pays non établi dans la noticeÉtablissement de santé
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Department of Paediatric Inherited Metabolic Diseases Evelina London Children's Hospital pays non établi dans la noticeÉtablissement de santé
University College Hospital, Department of Paediatric Nephrology and Transplantation — Great Ormond Street Hospital for Children NHS Foundation Trust et University College London, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.