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Boletín Médico del Hospital Infantil de México

2013, Número 6

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Bol Med Hosp Infant Mex 2013; 70 (6)


Raquitismos hipofosfatémicos hereditarios

Velásquez-Jones L, Medeiros-Domingo M

Idioma: Español
Referencias bibliográficas: 57
Paginas: 421-431
Archivo PDF: 415.58 Kb.


RESUMEN

Los raquitismos hipofosfatémicos hereditarios (RHH) son un grupo de enfermedades caracterizadas por la pérdida renal de fosfatos, que ocasionan retardo del crecimiento, raquitismo y osteomalacia. La forma más común es el raquitismo hipofosfatémico ligado al cromosoma X, el cual es causado por mutaciones inactivantes en el gen PHEX.
Las otras formas de los síndromes hipofosfatémicos hereditarios presentan menor prevalencia. Estas incluyen el raquitismo hipofosfatémico autosómico dominante, el raquitismo hipofosfatémico autosómico recesivo tipos 1 y 2 y el raquitismo hipofosfatémico hereditario con hipercalciuria.
En este artículo se revisan las bases genéticas de los diferentes tipos de RHH, las manifestaciones clínicas, las características bioquímicas en sangre y orina y los nuevos aspectos de su tratamiento.


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