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Case Report: Patient with Deficiency of ADA2 Presenting Leukocytoclastic Vascul...

Simão Raimundo, D; Cordeiro, AI; Parente Freixo, J; Valente Pinto, M; Neves, C; Farela Neves, J

Date: 2023   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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X-linked Hypophosphatemic Rickets: a New Mutation

Maio, P; Mano, L; Rocha, S; Baeta Baptista, R; Francisco, T; Sousa, H; Parente Freixo, J; Abranches, M

Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia...

Date: 2021   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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