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Iatreia
versión impresa ISSN 0121-0793
Resumen
GUERRERO-TINOCO, Gustavo Adolfo; GARCIA-BERMEJO, Roberto y CARDONA-OROZCO, Evelin Julieth. X - Linked Hypophosphatemic Rickets: A diagnostic and therapeutic challenge X-linked. Iatreia [online]. 2021, vol.34, n.3, pp.280-285. Epub 04-Ago-2021. ISSN 0121-0793. https://doi.org/10.17533/udea.iatreia.92.
X-linked hypophosphatemia is a genetic disorder caused by PHEX gene mutations, which affects the encoding of a metalloprotease whose function is to inhibit fibroblastic growth factor-23 (FGF-23), promoting phosphate renal loss.
Following we describe the case of a teenager diagnosed with a PHEX gene mutation. The same genetic alteration was found in the mother of the patient, considering a spontaneous mutation that was transmitted to her son, which makes the case, even rarer, where the diagnostic challenge needs to overcome administrative, economic and social difficulties. A timely diagnosis and treatment could help optimize the final height and minimize the skeletal deformities presented in both the mother and the child. Currently, there is a traditional treatment and a novel one that was ordered for the pediatric patient in this report.
Palabras clave : Child; Hypophosphatemia; Osteomalacia; Ricket.