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Diversidad fenotípica en el raquitismo hipofosfatémico autosómico recesivo tipo 2

Maimoona Al Qanoobi¹, Maryam Al Badi², Aisha Al Sinani²

¹Department of Pediatrics, Al Nahdha Hospital, Muscat, Sultanate of Oman.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

|February 10, 2026

Resumen

El raquitismo hipofosfatémico autosómico recesivo tipo 2 (ARHR2) presenta diversos síntomas debido a las mutaciones en el gen ENPP1. Las pruebas genéticas son cruciales para el diagnóstico de este trastorno raro y su desperdicio de fosfato relacionado.

Área de la Ciencia:

Genética La genética.
Endocrinología Endocrinología.
La pediatría es la medicina de los niños.

Sus antecedentes:

El raquitismo hipofosfatémico autosómico recesivo tipo 2 (ARHR2) es un trastorno genético raro.
Es causada por mutaciones bialélicas en el gen ENPP1, lo que lleva a una amplia gama de presentaciones clínicas.
La deficiencia de ENPP1 afecta el metabolismo de los fosfatos y puede causar raquitismo y otros problemas sistémicos.

Objetivo del estudio:

Describir las características clínicas heterogéneas de ARHR2 en tres hermanos de una familia consanguínea.
Para investigar el perfil bioquímico, incluidos los niveles de FGF23 y pirofosfato inorgánico (PPi).
Para enfatizar la utilidad diagnóstica de las pruebas genéticas para las mutaciones ENPP1.

Principales métodos:

Descripción del caso clínico de tres hermanos afectados y su padre.
Análisis bioquímicos que incluyen fosfato sérico, fosfatasa alcalina, TmP/GFR, FGF23 y pirofosfato inorgánico plasmático (PPi).
Pruebas genéticas para identificar las variantes del gen ENPP1.

Principales resultados:

Los hermanos exhibieron características clínicas marcadamente heterogéneas, que van desde el raquitismo clásico hasta estenosis vasculares y pérdida de audición.
Todos los niños afectados mostraron hipofosfatemia, reducción de TmP / GFR y niveles alterados de FGF23, indicativos de pérdida de fosfato.
Se observaron niveles plasmáticos de PPi marcadamente reducidos en individuos afectados, con una leve reducción en los portadores.
Se identificó una variante homocigótica de ENPP1 (c.2559_2561del p.(Leu854del)) en los hermanos afectados.

Conclusiones:

La deficiencia de ENPP1 presenta una heterogeneidad clínica significativa, lo que subraya la importancia de reconocer las diversas manifestaciones.
La reducción de los niveles plasmáticos de PPi es un marcador bioquímico clave en ARHR2.
Las pruebas genéticas para las mutaciones ENPP1 son esenciales para un diagnóstico preciso y la diferenciación de otros raquitismo hipofosfatémico.

Palabras clave:

ENPP1: ecto-nucleótido pirofosfatasa/fosfodiesterasa-1 y sus derivados.ARHR2: raquitismo hipofosfatémico autosómico recesivo tipo 2 BMD: Densidad mineral ósea.FGF-23: Factor de crecimiento de los fibroblastos 23 23 GACI: Calcificación arterial generalizada de la infancia.PPi: Pirofosfato inorgánico de origen orgánico.

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