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Reporte de Caso: Mutaciones Compuestas Heterocigotas de SCNN1B que Causan Pseudohipoaldosteronismo Tipo 1B2 en
Zhiping Wang1, Lijuan Long1, Hongjuan Bi1
1Department of Neonatology, Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital, Nanning, China.
Molecular genetics & genomic medicine
|December 28, 2025
Resumen
Este estudio reporta los primeros casos chinos de pseudohipoaldosteronismo sistémico tipo 1B (PHA1B) en gemelos prematuros con mutaciones novedosas del gen SCNN1B. Las pruebas genéticas tempranas son cruciales para el diagnóstico y manejo de estas graves alteraciones electrolíticas neonatales.
Área de la Ciencia:
- Genética; Pediatría; Endocrinología
Sus antecedentes:
- El pseudohipoaldosteronismo tipo I (PHA1) es un trastorno genético raro que causa resistencia a la aldosterona, lo que lleva a desequilibrios electrolíticos.
- El PHA1B sistémico, causado por mutaciones en SCNN1A, SCNN1B o SCNN1G, es grave y se presenta en el período neonatal.
- Las mutaciones de SCNN1B son menos comunes que las mutaciones de SCNN1A en el PHA1B.
Objetivo del estudio:
- Reportar los primeros casos chinos de PHA1B de inicio neonatal.
- Describir mutaciones novedosas compuestas heterocigotas de SCNN1B.
- Destacar la importancia de las pruebas genéticas en las alteraciones electrolíticas neonatales.
Principales métodos:
- Reporte de caso de gemelos prematuros dizigóticos que presentaron anomalías electrolíticas graves.
- Investigaciones de laboratorio que incluyen paneles de electrolitos y niveles hormonales.
- Secuenciación del exoma completo para identificar mutaciones en el gen SCNN1B.
Principales resultados:
- Los gemelos presentaron hiponatremia, hipercalemia y acidosis metabólica no respondedoras al tratamiento inicial.
- Los niveles elevados de renina plasmática y aldosterona confirmaron la resistencia a la aldosterona.
- Se identificaron mutaciones novedosas compuestas heterocigotas de SCNN1B (c.585+2T>C y c.1544T>C).
Conclusiones:
- Estos son los primeros casos chinos reportados de PHA1B neonatal debido a mutaciones novedosas compuestas heterocigotas de SCNN1B.
- Los hallazgos amplían el espectro mutacional conocido de SCNN1B.
- Las pruebas genéticas tempranas son vitales para las alteraciones electrolíticas neonatales refractarias.
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