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Manifestaciones gastrointestinales en el síndrome de Rubinstein-Taybi
Mohamad Abi Nassif1, Ajay Kaul1,2, Lev Dorfman1
1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
American journal of medical genetics. Part A
|February 22, 2026
Resumen
Los problemas gastrointestinales como el estreñimiento y el reflujo son comunes en el síndrome de Rubinstein-Taybi, que a menudo aparecen antes del diagnóstico. La gestión temprana y la atención multidisciplinaria son cruciales para los niños afectados.
Área de la Ciencia:
- Gastroenterología Pediátrica Gastroenterología pediátrica
- Genética Clínica Genética clínica.
- Pediatría del desarrollo Pediatría del desarrollo.
Sus antecedentes:
- El síndrome de Rubinstein-Taybi (RTS) es un trastorno genético raro con diversas deficiencias.
- Los problemas gastrointestinales (GI) en RTS no están bien documentados, a pesar de la evidencia anecdótica de una alta prevalencia.
- Los datos existentes sobre los síntomas gastrointestinales en RTS provienen de informes de casos y pequeñas series de pacientes.
Objetivo del estudio:
- Caracterizar el espectro y la prevalencia de las comorbilidades gastrointestinales y nutricionales en niños con RTS.
- Para investigar el momento de la aparición de síntomas gastrointestinales en relación con el diagnóstico genético en pacientes con RTS.
- Evaluar el impacto de las intervenciones, incluida la colocación del tubo de gastrostomía, en el estado nutricional y la alimentación en RTS.
Principales métodos:
- Análisis retrospectivo de 85 niños con RTS vistos en un centro pediátrico terciario (2013-2023).
- Revisión de los registros de pacientes para los síntomas gastrointestinales informados, evaluaciones clínicas, procedimientos de diagnóstico y apoyo nutricional.
- Análisis de los parámetros de crecimiento (peso, índice de masa corporal z-scores) antes y después de las intervenciones.
Principales resultados:
- Más de la mitad de los pacientes con RTS (54%) experimentaron síntomas gastrointestinales, a menudo previos al diagnóstico genético.
- El estreñimiento fue el síntoma más frecuente, seguido de reflujo, disfagia, vómitos y dificultades para alimentarse.
- Casi la mitad de los pacientes requirieron soporte de tubo de gastrostomía, lo que condujo a una mejora en el peso y los puntajes z del IMC, y algunos pasaron a la alimentación oral.
Conclusiones:
- Los niños con el síndrome de Rubinstein-Taybi tienen una carga significativa de problemas gastrointestinales y nutricionales.
- La identificación temprana y el manejo integral y multidisciplinario son esenciales para abordar las comorbilidades GI en RTS.
- Las intervenciones como los tubos de gastrostomía pueden mejorar los resultados nutricionales en pacientes con RTS con problemas graves de alimentación.
Palabras clave:
El síndrome de Rubinstein Taybi.estreñimiento estreñimiento.La disfagia es una disfagia.intolerancia a la alimentación de los animales.gastroenterología y gastroenterología.síntomas gastrointestinales y síntomas gastrointestinales.genética pediátrica genética pediátricaMás Videos Relacionados
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