Repository logo
 
Thumbnail Image
Publication

A Physiological Approach to Recurrent Nephrolithiasis and its Genetic Determinants

2020Journal article Open access
http://hdl.handle.net/10400.17/3523
Use this identifier to reference this record.
Name:Description:Size:Format: 
RPNH 2020 61.pdf408.7 KBAdobe PDF Download

Authors

Moreira Fonseca, N
Livrozet, M
Varga-Poussou, R
Letavernier, E
Frochot, V
Daudon, M
Haymann, JP

Advisor(s)

Abstract(s)

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.

Description

Keywords

HCC NEF Calcitriol Hypercalciuria Hyperphosphaturia Nephrolithiasis

URI

http://hdl.handle.net/10400.17/3523

Citation

Port J Nephrol Hypert 2020; 34(1): 61-63

Research Projects

Organizational Units

Journal Issue

Publisher

Sociedade Portuguesa de Nefrologia e Hipertensão

Collections

NEF - Artigos

CC License