Abordaje multidisciplinario de la hipofosfatemia ligada al cromosoma X: revisión de la literatura
DOI:
https://doi.org/10.37711/rpcs.2024.6.4.551Palabras clave:
análisis genotipo-fenotipo, evaluación de resultados, raquitismo hipofosfatémico ligado al cromosoma X, saludResumen
La hipofosfatemia ligada al cromosoma X (XLH) representa la forma hereditaria más prevalente de raquitismo y osteomalacia. Esta condición se origina por una alteración en la regulación del factor de crecimiento de fibroblastos 23 (FGF23), debido a una mutación en el gen PHEX. Dicha mutación conlleva a una disminución en la reabsorción tubular de fosfato, una reducción en la actividad renal de la 1a-hidroxilasa y un aumento en la actividad renal de la 24-hidroxilasa. Los pacientes con XLH manifiestan raquitismo y osteomalacia, deformidades significativas en las extremidades inferiores, dolor óseo y muscular, retraso en el crecimiento y una calidad de vida disminuida. Por lo tanto, la XLH es un trastorno multisistémico que exige abordajes multidisciplinarios en subdisciplinas altamente especializadas. Las complicaciones graves asociadas con la XLH incluyen craneosinostosis, pérdida de audición, deformidades óseas progresivas, lesiones dentales y periodontales recurrentes, y angustia psicosocial. Esta problemática motivó la realización de una revisión de literatura en la revista PLOS ONE y las bases de datos PubMed y Google Scholar, abarcando las publicaciones de los últimos 5 años, con el objetivo de facilitar un diagnóstico y tratamiento adecuados.
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Derechos de autor 2024 Britto Ebert Falcon-Guerrero, Guido Sebastián Falcón-Pasapera, Robert Willy Falcón-Guerrero
Esta obra está bajo una licencia internacional Creative Commons Atribución 4.0.
