Hiperparatiroidismo primario de fenotipo clásico

Introducción: el hiperparatiroidismo primario se caracteriza por hipercalcemia y niveles elevados de hormona paratiroidea y se puede manifestar como tres fenotipos clínicos: clásico, asintomático y normocalcémico.

Objetivo: presentar un caso de hiperparatiroidismo primario de fenotipo clásico y discutir su fisiopatología, abordaje y tratamiento.

Presentación del caso: mujer de 36 años quien consultó por tres fracturas patológicas simultáneas y disminución en la densidad mineral ósea (DMO), asociado al hallazgo intrahospitalario de nefrocalcinosis, insuficiencia renal, hipercalcemia y niveles aumentados de hormona paratiroidea. Según estos hallazgos, se dio diagnóstico de hiperparatiroidismo primario de fenotipo clásico, secundario a adenoma paratiroideo izquierdo y que recibió tratamiento quirúrgico.

Discusión y conclusión: el hiperparatiroidismo primario de fenotipo clásico es una entidad patológica poco frecuente y se relaciona con graves complicaciones esqueléticas y renales. Hay pocos casos descritos en la literatura, por lo que se requiere realizar más estudios en nuestro medio para definir las particularidades epidemiológicas de los pacientes, logrando de esta manera evitar los casos con manifestaciones clínicas en etapas avanzadas de la enfermedad.

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adenoma
fractura
hipercalcemia
hiperparatiroidismo
nefrocalcinosis