SÍNDROME DE ZELLWEGER: EL PROTAGONISTA DE LOS DESÓRDENES PEROXISOMALES
Zellweger Syndrome: The Protagonist of Peroxisomal Disorders
DOI:
https://doi.org/10.47187/cssn.Vol17.Iss1.507Palabras clave:
etiología, genética, patología, proteína PEX, peroxisomas, síndrome de Zellweger (SZ)Resumen
Introducción: LEl Síndrome de Zellweger (SZ) es un trastorno genético raro que afecta la biogénesis de los peroxisomas. Su incidencia es de 1 en 50,000 a 100,000 nacimientos mundialmente, sus efectos incluyen disfunción hepática y daño neurológico severo. Objetivo: Analizar las manifestaciones clínicas, el diagnóstico y los tratamientos actuales del SZ, basándose en estudios recientes. Métodos: Búsqueda en las bases de datos PubMed, ScienceDirect y DynaMed con un total de 416 artículos identificados inicialmente. Tras aplicar los criterios de inclusión y exclusión, se seleccionaron 30 estudios relevantes para la redacción de esta revisión. Resultados: La fisiopatología del SZ se relaciona con la acumulación de ácidos grasos de cadena muy larga, factor que provoca daño en la membrana neuronal y desmielinización, además de daños renales, e hígado. Los pacientes con SZ se clasifican en tres estratos: neonatal-infantil, infantil y adolescente-adulto. El SZ muestra una gama de manifestaciones clínicas que cambian según la edad: ictericia y defectos faciales en neonatos; desfase en el desarrollo y pérdida auditiva en la infancia; finalmente señales avanzadas en adultos. El diagnóstico se enfoca en la identificación del diagnóstico clínico y en análisis genético de mutaciones en genes PEX. Proteínas que resultan fundamentales para la formación y función de los peroxisomas. Actualmente no existe remisión completa, pero tratamientos como el ácido docosahexaenoico y el ácido cólico han mostrado mejorar síntomas. Conclusión: La investigación continua es esencial para el conocimiento del síndrome con el objetivo de mejorar el diagnóstico y tratamiento sintomático
Abstract
Introduction: Zellweger syndrome (ZS) is a rare genetic disorder that affects peroxisome biogenesis. Its incidence is 1 in 50,000 to 100,000 births worldwide; its effects include liver dysfunction and severe neurological damage. Objective: To analyze the clinical manifestations, diagnosis, and contemporary treatments of ZS based on recent studies. Methods: A search of PubMed, ScienceDirect and DynaMed databases was preformed, yielding and total of 416 articles initially identified. After applying inclusion and exclusion criteria, 30 relevant studies were selected for this review. Results: The pathophysiology of ZS is related to the accumulation of very long-chain fatty acids, a factor that causes neuronal membrane injury, demyelination, and renal and hepatic damage. Patients with ZS are classified into three categories: neonatal-infant, infant and adolescent-adult. ZS presents with a spectrum of clinical manifestations that vary according to age: jaundice and facial abnormalities in neonates; developmental delay and hearing loss in infancy; and progressive symptoms in adults. Diagnosis is use as a basis clinical identification and genetic analysis of mutations in PEX genes. PEX proteins are crucial for biogenesis and function of peroxisomes, which underlines the importance of identifying genetic alterations. Currently, there is no cure, but treatments such a docosahexaenoic acid cholic acid have shown improvement of symptoms. Conclusions: Further research is essential to our understanding of the syndrome, with a view to improving diagnosis and symptomatic treatment.
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