Resumo

FONSECA, Nuno Moreira et al. A physiological approach to recurrent nephrolithiasis and its genetic determinants. Port J Nephrol Hypert [online]. 2020, vol.34, n.1, pp.61-63. ISSN 0872-0169.  https://doi.org/10.32932/pjnh.2020.04.066.

We report a case of a 63-year-old patient with recurrent nephrolithiasis for over 40 years and a significant family history of nephrolithiasis. The patient underwent full investigation at our department. He presented hypercalcemia, hypophosphatemia and hypercalciuria, with parathyroid hormone level in the normal range. A calcium load test and a fluorocholine PET-CT excluded primary hyperparathyroidism. Abnormal secretion of parathyroid hormone-related protein and sarcoidosis were also excluded. Genetic analysis showed mutations encoding for 25(OH)-vitamin D3-24-hydroxylase (CYP24A1) and Na-dependent phosphate cotransporter 2c (SLC34A3). This case affords insights into the biological pathways that underlie the role of genetic inheritance and accrued risk of development of nephrolithiasis.

Palavras-chave : Calcitriol; Hypercalciuria; Hyperphosphaturia; Nephrolithiasis.

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