Post-liver transplantation follow-up over 17 years for mild Zellweger spectrum disorder and additional cases
(2017) Development of Therapies for Peroxisomal Biogenesis Disorders Scientific Conference — Location: Washington DC, USA (13.July.2017)
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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, since plasmalogen supplementation, low phytanic acid diet, cholic acid, and docosahexaenoic acid have not shown clinical benefits. Liver transplantation (LT) was shown to correct levels of circulating toxic metabolites, partly responsible for chronic neurological impairment, with LT survival currently being >95%. 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- (17 years post-LT) and short-term (9 months post-LT) follow-up. We documented a sustained improvement in the biochemical profile, with a complete normalization of plasma phytanic, pristanic and pipecolic acid levels. This was associated with improved clinical evolution, puberty achievement, as well as stabilization of hearing and visual functions, and neurodevelopmental status, which has enabled the older patient to lead a relatively autonomous lifestyle on the long-term. The psychomotor acquisitions have been remarkable. Specially seen in comparison to their affected siblings who did not undergo LT and exhibited a poor neurological outcome with severe disabilities. Based on our short- and long-term follow-up experience, 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., van Maldergem, L., Reding, R., & Sokal, E. (2017). Post-liver transplantation follow-up over 17 years for mild Zellweger spectrum disorder and additional cases. Development of Therapies for Peroxisomal Biogenesis Disorders Scientific Conference, Washington DC, USA.