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Fenotipo renal severo a través de un complejo de esclerosis tuberosa multigeneracional (TSC) de la familia

Elena Tuller¹, Joshua A Samuels², Hope Northrup¹

¹Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at UTHealth Houston, and Children's Memorial Hermann Hospital, Houston, Texas, USA.

Molecular genetics & genomic medicine

|February 21, 2026

Resumen

El complejo de esclerosis tuberosa (TSC) está relacionado con una enfermedad renal grave en una familia multigeneracional con una variante específica del gen TSC2. Comprender esta correlación genotipo-fenotipo mejora el pronóstico y el manejo clínico de los pacientes con SCT.

Área de la Ciencia:

Genética La genética.
Nefrología Nefrología.
La medicina clínica es la medicina clínica.

Sus antecedentes:

El complejo de esclerosis tuberosa (TSC) es un trastorno autosómico dominante que causa hamartomas en múltiples órganos.
El trastorno neuropsiquiátrico asociado al TSC (TAND) es una manifestación compleja.
El establecimiento de correlaciones genotipo-fenotipo ayuda en los datos pronósticos y en la gestión clínica.

Objetivo del estudio:

Para investigar una correlación genotipo-fenotipo en una familia multigeneracional con TSC.
Para caracterizar un fenotipo renal severo asociado con una variante patógena TSC2 específica.

Principales métodos:

Confirmación molecular del diagnóstico de TSC en un varón de 23 años.
Identificación de una variante patógena sin sentido (c.1372C>T (p.Arg458*)) en el gen TSC2.
Análisis de los miembros afectados de la familia a través de varias generaciones.

Principales resultados:

Los miembros de la familia afectados exhibieron un fenotipo renal severo.
Los hallazgos clave incluyeron una gran carga de angiomiolipoma (AML), enfermedad quística renal y enfermedad renal crónica.
La insuficiencia renal fue una consecuencia en los individuos afectados.

Conclusiones:

Existe una potencial correlación genotipo-fenotipo entre la variante TSC2 identificada y un fenotipo renal severo.
Esta serie de casos subraya la importancia de las interacciones genotipo-fenotipo para la orientación anticipada.
El manejo clínico se puede mejorar a través de la comprensión de estos vínculos genético-clínicos.

Palabras clave:

TSC2TSC2 TSC2 TSC2 TSC2 TSC2 TSC2 TSC2 TSC2 TSC2 El angiomyolipoma es el angiomyolipoma.El riñón es el riñón.variante patógena de la misma.El complejo de la esclerosis tuberosa.

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