Nephrolithiasis is a common condition. The most common types of kidney stones contain calcium (most often calcium oxalate or calcium phosphate), representing 90 % of all stones. The etiology of calcium nephrolithiasis is multifactorial, involving nutritional, environmental, and genetic determinants. Genetics play a role in defining the metabolic “milieu” from which kidney stones may form. Monogenic stone-forming conditions are rare but very interesting as “models” to highlight the genetic component of idiopathic nephrolithiasis. Among the others, a tendency to form stones may derive from anomalies of the calcium-sensing receptor, adenylyl cyclase, vitamin D receptor, claudin, chloride channels, phosphatidylinositol 4,5-bisphosphate 5-phosphatase, sodium/phosphate transporter, carriers involved in the pathogenesis of distal renal tubular acidosis, genes involved in renal morphogenesis, and medullary sponge kidney.

Ferraro, P. M., Gambaro, G., The Genetics of Kidney Stones, in Talati, J. J., Tiselius, H., Albala, D. M., Ye, Z. (ed.), Urolithiasis, Springer London, LONDON -- GBR 2012: 141- 149. 10.1007/978-1-4471-4387-1_16 [http://hdl.handle.net/10807/83560]

The Genetics of Kidney Stones

Ferraro
Primo
;
Pietro Manuel; Gambaro
Ultimo
2012

Abstract

Nephrolithiasis is a common condition. The most common types of kidney stones contain calcium (most often calcium oxalate or calcium phosphate), representing 90 % of all stones. The etiology of calcium nephrolithiasis is multifactorial, involving nutritional, environmental, and genetic determinants. Genetics play a role in defining the metabolic “milieu” from which kidney stones may form. Monogenic stone-forming conditions are rare but very interesting as “models” to highlight the genetic component of idiopathic nephrolithiasis. Among the others, a tendency to form stones may derive from anomalies of the calcium-sensing receptor, adenylyl cyclase, vitamin D receptor, claudin, chloride channels, phosphatidylinositol 4,5-bisphosphate 5-phosphatase, sodium/phosphate transporter, carriers involved in the pathogenesis of distal renal tubular acidosis, genes involved in renal morphogenesis, and medullary sponge kidney.
Inglese
Urolithiasis
978-1-4471-4383-3
Springer London
Ferraro, P. M., Gambaro, G., The Genetics of Kidney Stones, in Talati, J. J., Tiselius, H., Albala, D. M., Ye, Z. (ed.), Urolithiasis, Springer London, LONDON -- GBR 2012: 141- 149. 10.1007/978-1-4471-4387-1_16 [http://hdl.handle.net/10807/83560]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/83560
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