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Enfermedad Inflamatoria Intestinal Monogénica por una Nueva Mutación en SMAD7
Bipresh Chakraborty1, Pragnya Ghosh Dastidar1, Shamik Banerjee1
1Department of Gastroenterology, School of Digestive & Liver Diseases, Institute of Postgraduate Medical Education & Research, Kolkata, India.
ACG case reports journal
|December 17, 2025
Resumen
Se identificó una nueva mutación en el gen SMAD7 en un niño con enfermedad inflamatoria intestinal de muy inicio temprano (EII). Este hallazgo resalta la importancia de las pruebas genéticas en casos de EII de inicio temprano.
Área de la Ciencia:
- Genética
- Pediatría
- Gastroenterología
Sus antecedentes:
- La enfermedad inflamatoria intestinal (EII) de muy inicio temprano a menudo implica mutaciones monogénicas, con un 10-15% de los casos relacionados con causas genéticas.
- La secuenciación de próxima generación (NGS) es crucial para identificar mutaciones novedosas que causan enfermedades en la EII.
- Se deben considerar los trastornos monogénicos en pacientes pediátricos con EII que no responden a los tratamientos estándar.
Objetivo del estudio:
- Informar sobre un caso de enfermedad de Crohn de muy inicio temprano en un niño.
- Identificar la base genética de la enfermedad mediante secuenciación del exoma completo.
- Investigar el papel del gen SMAD7 en la EII pediátrica.
Principales métodos:
- Secuenciación del exoma completo (WES) utilizando secuenciación de próxima generación (NGS).
- Diagnóstico clínico de enfermedad de Crohn en una niña de 4 años con diarrea crónica sanguinolenta y retraso del crecimiento.
- Evaluación de la respuesta al tratamiento con biológicos.
Principales resultados:
- Se identificó una nueva mutación patógena en el gen SMAD7 (mothers against decapentaplegic homolog 7).
- El paciente, diagnosticado con enfermedad de Crohn, mostró una respuesta positiva a la terapia biológica.
- La mutación identificada en SMAD7 representa un nuevo factor genético en la EII de muy inicio temprano.
Conclusiones:
- El análisis genético, en particular la NGS, es esencial para el diagnóstico de la EII de muy inicio temprano, especialmente en casos con mala respuesta a la inmunosupresión.
- El gen SMAD7 está implicado en la patogénesis de la EII y presenta una posible diana terapéutica.
- La identificación temprana de causas monogénicas puede guiar estrategias de tratamiento personalizadas para la EII pediátrica.
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