Enfermedad Poliquística Renal, Diagnóstico Temprano En Niños Y Adolescentes
DOI:
https://doi.org/10.55204/scc.v2i2.e21Palabras clave:
adolescente, diagnóstico por imagen, diagnóstico precoz, enfermedades renales quísticas, niño, riñón poliquístico autosómico recesivoResumen
Introducción: la enfermedad poliquística renal se caracteriza por el desarrollo precoz de múltiples quistes renales que remueven y comprimen el parénquima renal normal, lo que provoca una disminución progresiva de la tasa de filtración glomerular.
Objetivo: describir la enfermedad poliquística renal y su diagnóstico temprano en niños y adolescentes.
Desarrollo: los avances en medicina han transformado la detección y prevención de enfermedades hereditarias, como la enfermedad poliquística renal. El diagnóstico con pruebas genéticas de alta sensibilidad (86%-100%) para identificar mutaciones en los genes PKD1 y PKD2. La ecografía es clave para el diagnóstico en niños, mientras que la resonancia magnética ofrece una precisión del 98% en casos específicos, y respaldada por la inteligencia artificial la tomografía computarizada logra un 94% de precisión. Al ser una patología influenciada por factores genéticos, clínicos y ambientales, los genes PKD1 y PKD2 son cruciales, junto con la edad al diagnóstico, niveles de creatinina, infecciones de quistes y volumen renal. La detección temprana es crucial, aunque plantea desafíos y beneficios cuestionables, requiriendo criterios de diagnóstico y seguimiento óptimo.
Conclusiones: Las pruebas genéticas y la ecografía son clave para diagnosticar defectos genéticos. La EPR es una enfermedad influenciada por genes como PKD1 y PKD2. La detección temprana de la EPR es esencial pero debatida en eficacia.
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Derechos de autor 2023 Ana Judith Morocho Lancha, Andres Santiago Bueno Castro
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