Abstract

GUERRERO-TINOCO, Gustavo Adolfo; GARCIA-BERMEJO, Roberto  and  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 Aug 04, 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.

Keywords : Child; Hypophosphatemia; Osteomalacia; Ricket.

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