A physiological approach to recurrent nephrolithiasis and its genetic determinants
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.
| Main Authors: | , , , , , , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Sociedade Portuguesa de Nefrologia
2020
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| Online Access: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100012 |
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