ADOPA
Publicado: 30-08-2024
DOI: https://doi.org/10.58994/adopa.v2i2.26
Hipofosfatemia Ligada al X: Reporte de Caso
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Resumen
Introduction. X-linked hypophosphatemia is mainly characterized by short stature, rickets, bone deformities predominantly in the lower segment of the body such as genu varum or genu valgum, and dental anomalies. The cause is pathogenic variants in the PHEX gene, altering the production of proteins linked to phosphate reabsorption at the kidney level, transmitted with an X-linked dominant inheritance pattern. Objective. Make pediatricians and subspecialties aware of the diagnosis of x-linked hypophosphatemia in the Dominican Republic, so that they can identify it and participate in a timely manner in its diagnosis and treatment. Material and method. We present a 5-year-old female patient with compatible phenotypic, biochemical and radiographic findings of this disease. Confirmed with molecular genetic testing. Conclusions. The patient's clinical manifestations, her age at presentation and her evolution prior to diagnosis correspond with the natural history of this disease. We emphasize the importance of early recognition and the integration of multidisciplinary management, including genetic counseling and psychological support.
Abstract
Introduction. X-linked hypophosphatemia is mainly characterized by short stature, rickets, bone deformities predominantly in the lower segment of the body such as genu varum or genu valgum, and dental anomalies. The cause is pathogenic variants in the PHEX gene, altering the production of proteins linked to phosphate reabsorption at the kidney level, transmitted with an X-linked dominant inheritance pattern. Objective. Make pediatricians and subspecialties aware of the diagnosis of x-linked hypophosphatemia in the Dominican Republic, so that they can identify it and participate in a timely manner in its diagnosis and treatment. Material and method. We present a 5-year-old female patient with compatible phenotypic, biochemical and radiographic findings of this disease. Confirmed with molecular genetic testing. Conclusions. The patient's clinical manifestations, her age at presentation and her evolution prior to diagnosis correspond with the natural history of this disease. We emphasize the importance of early recognition and the integration of multidisciplinary management, including genetic counseling and psychological support.
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Referencias
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