Gordillo-de Anda R

Idioma: Español
Referencias bibliográficas: 38
Paginas: 24-31
Archivo PDF: 335.79 Kb.

RESUMEN

Las tubulopatías renales son enfermedades hereditarias por mutaciones en los genes que codifican proteínas transportadoras de elementos específicos; esta alteración ocasiona alteraciones variadas. El síndrome de Michelis-Castrillo es una rara tubulopatía renal con alteración en las claudinas 16 y 19, que son dos proteínas de las uniones intercelulares apretadas y localizadas en la rama ascendente del asa de Henle. Estas uniones están involucradas en el transporte de los iones dibásicos el calcio y el magnesio, por lo que se traduce en hipercalciuria e hipermagnesuria con nefrocalcinosis e insuficiencia renal crónica progresiva. Se informa el caso de un neonato en quien se detectó nefrocalcinosis en un ultrasonido prenatal realizado a la madre gestante, por existir también calcificaciones placentarias e insuficiencia placentaria se decidió interrumpir el embarazo. Al nacer se estableció diagnóstico y tratamiento; reportamos los hallazgos iniciales, diagnóstico diferencial, tratamiento establecido, evolución en cinco años de seguimiento y revisión de la literatura.

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