X - Linked Hypophosphatemic Rickets: A diagnostic and therapeutic challenge

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...

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Published inIatreia (Medellín, Colombia) Vol. 34; no. 3; pp. 280 - 285
Main Authors Guerrero Tinoco, Gustavo Adolfo, García Bermejo, Roberto, Cardona Orozco, Evelin Julieth
Format Journal Article
LanguageSpanish
Published Universidad de Antioquia 01.07.2021
Subjects
child
hypophosphatemia
osteomalacia
ricket
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Summary: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.
ISSN:0121-0793
2011-7965
DOI:10.17533/udea.iatreia.92