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Cuando los síntomas no específicos ocultan la enfermedad renal: un informe de caso sobre el reconocimiento de la
Aryan Shah1, Aalok Shah2, Mathieu Lemaire3
1Aryan Shah, BSc, Medical Student, School of Medicine, Queen's University, Kingston, ON, Canada; Vinay Kukreti, MD, Staff Pediatrician, Lakeridge Health, Pediatrics, Oshawa, ON, Canada.
Resumen
La nefronoftisis juvenil (NPHP) es una causa genética de la enfermedad renal pediátrica. El diagnóstico precoz es crucial, ya que los síntomas no específicos como la fatiga y el vómito pueden retrasar la identificación de esta afección.
Área de la Ciencia:
- Nefrología pediátrica
- La genética médica
- Enfermedad renal crónica
Sus antecedentes:
- La nefronoftisis juvenil (NPHP) es la principal causa genética de la enfermedad renal crónica (ERC) en los niños.
- Los síntomas no específicos como la fatiga, las náuseas y los vómitos a menudo retrasan el diagnóstico.
- Las manifestaciones extra-renales no siempre están presentes, lo que complica aún más la identificación temprana.
Objetivo del estudio:
- Para presentar un estudio de caso de un niño de 9 años diagnosticado con NPHP.
- Para resaltar los desafíos de diagnóstico y la presentación clínica de NPHP.
- Hacer hincapié en la importancia de considerar la NPHP en pacientes pediátricos con síntomas y signos no específicos de ERC.
Principales métodos:
- Informe de caso de un niño de 9 años con vómitos agudos y crónicos, náuseas, fatiga, polidipsia y enuresis nocturna.
- El examen clínico reveló baja estatura, hipertensión, anemia y creatinina elevada.
- El diagnóstico incluyó ultrasonido renal y pruebas genéticas que confirmaron las mutaciones NPHP4.
Principales resultados:
- El paciente presentaba indicadores significativos de ERC que incluían baja estatura, hipertensión, anemia y creatinina sérica elevada.
- El ultrasonido renal identificó quistes corticomedulares.
- Las pruebas genéticas confirmaron las mutaciones heterocigóticas compuestas de NPHP4, estableciendo el diagnóstico de NPHP.
Conclusiones:
- Los proveedores de atención primaria pediátrica deben mantener un alto índice de sospecha de NPHP en niños con síntomas crónicos y no específicos.
- La presencia de signos de ERC, como retraso en el crecimiento, hipertensión, poliuria o enuresis nocturna, debe dar lugar a la consideración de la NPHP.
- El diagnóstico oportuno y el manejo integral, incluida la atención de apoyo y el eventual trasplante renal, son vitales para mejorar los resultados en la NPHP pediátrica.
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