Síndrome de Ondine: una revisión sistemática

Cristina Domingo Orihuela; Melinda Rosa Puga Santana; Beatriz García Puentedura

Cristina Domingo Orihuela Residente de Enfermería Pediátrica, Hospital Materno-Infantil. Jaén, España
Melinda Rosa Puga Santana Servicio de Geriatría, Hospital Universitario Ramón y Cajal. Madrid, España
Beatriz García Puentedura Servicio de Cirugía, Hospital de Bidasoa. Guipúzcoa, España

Palabras clave: Enfermedades raras, Síndrome de Ondine, Hipoventilación alveolar congénita, Mutación en el gen PHOX2B, Apnea central del sueño

Key-words: Rare diseases, Ondine syndrome, Congenital alveolar hypoventilation, Mutation in the PHOX2B gene, Central sleep apnea

Resumen

El Síndrome de Ondine es una enfermedad rara que aparece principalmente durante la etapa neonatal y es causada por mutaciones en el gen PHOX2B. Se caracteriza por hipoventilación alveolar congénita especialmente durante el sueño no REM. Presenta una sintomatología no distintiva de otras patologías por lo que es importante realizar un diagnóstico diferencial precoz. No presenta tratamiento curativo por lo que estará orientado a conseguir una mejor calidad de vida para los pacientes. Se realizó una revisión sistemática, siguiendo el protocolo PRISMA, cuyo número de registro es CRD42023394495. El objetivo de esta revisión es actualizar el conocimiento existente sobre este síndrome. Los resultados principales concluyen que la identificación del gen donde se produce la mutación que provoca esta enfermedad ha repercutido notable y positivamente en el desarrollo de la misma, mejorando los tiempos de diagnóstico, el abordaje clínico de la patología y aumentando la calidad de vida de pacientes y familiares. La aplicación de soporte ventilatorio de forma temprana se hace esencial en el cuidado de estos pacientes.

Abstract

Ondine Syndrome is a rare disease that appears mainly during the neonatal stage and is caused by mutations in the PHOX2B gene. It is characterized by congenital alveolar hypoventilation, especially during non-REM sleep. It presents non-distinctive symptoms from other pathologies, so it is important to make an early differential diagnosis. It does not present a curative treatment, so it will be aimed at achieving a better quality of life for patients. A systematic review was carried out, following the PRISMA protocol, whose registry number is CRD42023394495. The aim of this review is to update the existing knowledge on this syndrome. The main results conclude that the identification of the gene where the mutation that causes this disease occurs has had a notable and positive impact on its development, improving diagnosis times, the clinical approach to the pathology and increasing the quality of life of patients. and relatives. Early application of ventilatory support is essential in the care of these patients.

Bibliografía

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Síndrome de Ondine: una revisión sistemática

Ondine Syndrome: a systematic review

Resumen

Abstract

Bibliografía