X - Linked Hypophosphatemic Rickets: A diagnostic and therapeutic challenge
| Autor: | Guerrero Tinoco, Gustavo Adolfo, García Bermejo, Roberto, Cardona Orozco, Evelin Julieth |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Iatreia, Vol 34, Iss 3, Pp 280-285 (2021) |
| Druh dokumentu: | article |
| ISSN: | 0121-0793 2011-7965 |
| DOI: | 10.17533/udea.iatreia.92 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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