Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico / Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient

Se presenta el caso de un paciente joven de raza caucásica, con una enfermedad renal de causa no clara, con un diagnóstico final establecido por biopsia renal de nefroangioesclerosis benigna evolucionada. Debido a la posibilidad de haber tenido hipertensión arterial en edad pediátrica (sin estudio ni tratamiento), con los hallazgos de biopsia renal, el estudio genético de hipertensión mostró polimorfismos de riesgo en los genes APOL1 y MYH9 y, además, un diagnóstico inesperado de una deleción completa del gen NPHP1 en homocigosis, asociada al desarrollo de nefronoptisis. En conclusión, este caso ilustra la importancia de hacer estudio genético, sobre todo en pacientes jóvenes con enfermedad renal de causa no clara, incluso teniendo un diagnóstico histológico de nefroangioesclerosis. (AU)

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis. (AU)

[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient]. / Diagnóstico inesperado de nefronoptisis en estudio genético de hipertensión por diagnóstico histológico de nefroangioesclerosis benigna evolucionada en paciente joven caucásico.

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.