Peroxisomas y síndrome de Zellweger: Revisión sistemática de las terapias vigentes

Zellweger syndrome produces a progressive degeneration of liver, kidneys and central nervous system due to disruption in some of the pathways of peroxisomes, produced as a mutation in the peroxins’ genes. Dr. Martínez, discovered the relevance of the docosahexaenoic acid in the Zellweger syndrome and developed a supplementation treatment. Objectives: review of the treatment of Zellweger syndrome and evaluation of the advances in the clinical management due to the last discoveries in the peroxisomes biology and function. Search method: systematic review, using data bases to retrieved articles about treatment of Zellweger syndrome in the last 10 years. Inclusion of the clinical trials with different treatments in patients diagnosed of Zellweger Spectrum Disorder the last decade. Two articles found were read for the authors who extracted outcome data independently. Main results: the two articles were deeply analyzed. The number of participants who died during the trials was high, as expected given the gravity of the cases. In both trials the administration of the lost lipids was slightly improving the weight and height and some of the symptoms but was not affecting the vision or the quality of life of the patient. Conclusions: it is necessary a logarithm of early diagnosis of the patients, in order to initiate the treatment before the neurodegeneration will start. Gene therapy in these patients should be considered if a safety protocol could be achieved. We found insufficient evidence to determine the effectiveness of deficient lipids supplementation in PBD patients even though safety is demonstrated. El síndrome de Zellweger causa degeneración hepática, renal y del sistema nervioso central, por alteración de algunas de las vías de los peroxisomas, debido a la mutación en genes que codifican peroxinas. La Dra. Martínez descubrió la relevancia del ácido docosahexaenoico en el síndrome de Zellweger y desarrolló un tratamiento por suplementación. Objetivos: revisar el tratamiento en trastornos del espectro Zellweger y evaluar los avances del manejo clínico debido a los recientes descubrimientos de la biología de los peroxisomas y su función. Método de búsqueda: revisión sistemática usando bases de datos para recopilar artículos sobre tratamientos de trastornos del espectro Zellweger en la última década. Inclusión de los ensayos clínicos con los diferentes tratamientos en humanos diagnosticados de cualquier forma de síndrome de Zellweger en la última década. Los