Resumo

LEON RABANAL, Cristian  e  PONCE GAMBINI, Jenny. Familial X-chromosome linked hypophosphatemic rickets: Report of a case. Acta méd. Peru [online]. 2023, vol.40, n.1, pp.76-79.  Epub 09-Maio-2023. ISSN 1728-5917.  http://dx.doi.org/10.35663/amp.2023.401.2431.

Phosphate is regulated by the kidneys and the osseus system, mainly due to the action of parathyroid hormone (PTH) and a recently described molecule, fibroblast growth factor 23 (FGF-23). We present the cases of two patients, mother and son with X-chromosome linked hypophosphatemic rickets. The genetic study was performed, and a mutation in the PHEX gene was identified, a splicing type pathogenic variant in hemizygosis. This mutation was previously described as HGMD CS126536. Hypophosphatemic rickets belongs to a group of tubulopathies characterized by hyperphosphaturia. PHEX gene mutation with function loss leads to increased FGF-23 levels. PHEX degrades FGF-23 into inactive fragments, preventing excessive phosphate excretion and the development of hypophosphatemia. In patients with PTH or vitamin D non- dependent hypophosphatemia, a diagnosis of X-chromosome linked hypophosphatemic rickets should be considered.

Palavras-chave : Rickets; Hypophosphatemia; X Chromosome.

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