Publication
A Physiological Approach to Recurrent Nephrolithiasis and its Genetic Determinants
| dc.contributor.author | Moreira Fonseca, N | |
| dc.contributor.author | Livrozet, M | |
| dc.contributor.author | Varga-Poussou, R | |
| dc.contributor.author | Letavernier, E | |
| dc.contributor.author | Frochot, V | |
| dc.contributor.author | Daudon, M | |
| dc.contributor.author | Haymann, JP | |
| dc.date.accessioned | 2020-11-03T15:16:37Z | |
| dc.date.available | 2020-11-03T15:16:37Z | |
| dc.date.issued | 2020 | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Port J Nephrol Hypert 2020; 34(1): 61-63 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3523 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Sociedade Portuguesa de Nefrologia e Hipertensão | pt_PT |
| dc.subject | HCC NEF | pt_PT |
| dc.subject | Calcitriol | pt_PT |
| dc.subject | Hypercalciuria | pt_PT |
| dc.subject | Hyperphosphaturia | pt_PT |
| dc.subject | Nephrolithiasis | pt_PT |
| dc.title | A Physiological Approach to Recurrent Nephrolithiasis and its Genetic Determinants | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 63 | pt_PT |
| oaire.citation.startPage | 61 | pt_PT |
| oaire.citation.title | Portuguese Journal of Nephrology & Hypertension | pt_PT |
| oaire.citation.volume | 34 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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