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X-linked hypophosphatemic rickets: a new mutation

Maio, Patrícia; Mano, Lia; Rocha, Sara; Baptista, Rute Baeta; Francisco, Telma; Sousa, Helena; Freixo, João Parente; Abranches, Margarida.
J. bras. nefrol; 43 (2), 2021
Abstract 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...
Enfermedades Óseas, Raquitismo Hipofosfatémico Familiar/diagnóstico, Raquitismo Hipofosfatémico Familiar/genética, Hipofosfatemia, Mutación, Endopeptidasa Neutra Reguladora de Fosfato PHEX/genética
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Metabolic assessment in pure struvite stones formers: is it necessary?

Danilovic, Alexandre; Ferreira, Thiago Augusto Cunha; Gomes, Samirah Abreu; Wei, Isabela Akemi; Vicentini, Fabio Carvalho; Torricelli, Fabio Cesar Miranda; Marchini, Giovanni Scala; Mazzucchi, Eduardo; Srougi, Miguel; Nahas, William Carlos.
J. bras. nefrol; 43 (2), 2021
Abstract Background and objective: Magnesium ammonium phosphate stones (MAP), also known as struvite stones, are associated with urinary infection and impairment of renal unit. The aim of this study is to evaluate the urinary metabolic risk factors for recurrence of renal calculi in patients submitted ...
Enfermedades Óseas, Raquitismo Hipofosfatémico Familiar/diagnóstico, Raquitismo Hipofosfatémico Familiar/genética, Hipofosfatemia, Mutación, Endopeptidasa Neutra Reguladora de Fosfato PHEX/genética
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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Dhull, Rachita Singh; Jain, Reena; Deepthi, Bobbity; Cheong, Hae II; Saha, Abhijeet; Mehndiratta, Mohit; Basu, Srikanta.
J. bras. nefrol; 42 (4), 2020
Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in ...
25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética, Raquitismo Hipofosfatémico Familiar/diagnóstico, Raquitismo Hipofosfatémico Familiar/genética, Mutación, Hermanos, Vitamina D
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