LIVING-DONOR LIVER TRANSPLANTATION FOR MILD ZELLWEGER SPECTRUM DISORDER: UP TO 18 YEARS FOLLOW-UP
(2018) Metabolic.be — Location: Antwerpen, Belgium (18.May.2018)
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- Abstract
- 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. On the short term (24 months post-LT), liver transplantation (LT) was shown to correct levels of circulating toxic metabolites. We report three patients having undergone living-donnor LT for mild ZSD. One died shortly after LT, while the other two displayed significant neurodevelopmental improvement on both the short-term (9 months post-LT) and the long-term (18 years post-LT) follow-up. We documented a sustained improvement of biochemical functions, with a complete normalization of plasma phytanic, pristanic, and pipecolic acid levels along with C27-bile acid intermediates (dihydroxycholestanoic and trihydroxycholestanoic acids) disappearance. 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.
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Demaret, T., Varma, S., Stephenne, X., Smets, F., Scheers, I., Wanders, R., van Maldergem, L., Reding, R., & Sokal, E. (2018). LIVING-DONOR LIVER TRANSPLANTATION FOR MILD ZELLWEGER SPECTRUM DISORDER: UP TO 18 YEARS FOLLOW-UP. Metabolic.be, Antwerpen, Belgium.