Author(s): Moreira Fonseca, N ; Livrozet, M ; Varga-Poussou, R ; Letavernier, E ; Frochot, V ; Daudon, M ; Haymann, JP
Date: 2020
Persistent ID: http://hdl.handle.net/10400.17/3523
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): HCC NEF; Calcitriol; Hypercalciuria; Hyperphosphaturia; Nephrolithiasis
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.
