Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up
Autor: | Tanguy Demaret, Isabelle Scheers, Raymond Reding, Lionel Van Maldergem, Ronald J.A. Wanders, Sharat Varma, Françoise Smets, Etienne Sokal, Xavier Stéphenne |
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Přispěvatelé: | Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, APH - Methodology, Laboratory Genetic Metabolic Diseases, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - SSS/IREC/CHEX - Pôle de chirgurgie expérimentale et transplantation, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service de chirurgie et transplantation abdominale |
Jazyk: | angličtina |
Rok vydání: | 2018 |
Předmět: |
0301 basic medicine
Pediatrics medicine.medical_specialty medicine.medical_treatment living-donor liver transplantation Zellweger Spectrum Liver transplantation 03 medical and health sciences 0302 clinical medicine Infantile Refsum disease inborn error of metabolism medicine Psychomotor learning Transplantation Zellweger syndrome peroxisome biogenesis disorder business.industry Clinical course neurodevelopmental outcome medicine.disease Zellweger spectrum disorder 030104 developmental biology Inborn error of metabolism Pediatrics Perinatology and Child Health Living donor liver transplantation business 030217 neurology & neurosurgery |
Zdroj: | Pediatric transplantation, 22(3):e13112. Wiley-Blackwell Pediatric Transplantation, Vol. 22, no. 3, p. e13112 (2018) |
ISSN: | 1397-3142 |
Popis: | Mild Zellweger spectrum disorder, also described as Infantile Refsum disease, is attributable to mutations in PEX genes. Its clinical course is characterized by progressive hearing and vision loss, and neurodevelopmental regression. Supportive management is currently considered the standard of care, as no treatment has shown clinical benefits. LT was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment. Of three patients having undergone LT for mild ZSD, one died after LT, while the other two displayed significant neurodevelopmental improvement on both the long-term (17 years post-LT) and short-term (9 months post-LT) follow-up. We documented a sustained improvement of biochemical functions, with a complete normalization of plasma phytanic, pristanic, and pipecolic acid levels. This was associated with stabilization of hearing and visual functions, and improved neurodevelopmental status, which has enabled the older patient to lead a relatively autonomous lifestyle on the long term. The psychomotor acquisitions have been markedly improved as compared to their affected siblings, who did not undergo LT and exhibited a poor neurological outcome with severe disabilities. We speculate that LT performed before the onset of severe sensorineural defects in mild ZSD enables partial metabolic remission and improved long-term clinical outcomes. |
Databáze: | OpenAIRE |
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