Calcium-sensing receptor and calcium kidney stones
<p>Abstract</p> <p>Calcium nephrolithiasis may be considered as a complex disease having multiple pathogenetic mechanisms and characterized by various clinical manifestations. Both genetic and environmental factors may increase susceptibility to calcium stones; therefore, it is cru...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-11-01
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| Series: | Journal of Translational Medicine |
| Subjects: | |
| Online Access: | http://www.translational-medicine.com/content/9/1/201 |
| _version_ | 1818690438817644544 |
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| author | Vezzoli Giuseppe Terranegra Annalisa Rainone Francesco Arcidiacono Teresa Cozzolino Mario Aloia Andrea Dogliotti Elena Cusi Daniele Soldati Laura |
| author_facet | Vezzoli Giuseppe Terranegra Annalisa Rainone Francesco Arcidiacono Teresa Cozzolino Mario Aloia Andrea Dogliotti Elena Cusi Daniele Soldati Laura |
| author_sort | Vezzoli Giuseppe |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Calcium nephrolithiasis may be considered as a complex disease having multiple pathogenetic mechanisms and characterized by various clinical manifestations. Both genetic and environmental factors may increase susceptibility to calcium stones; therefore, it is crucial to characterize the patient phenotype to distinguish homogeneous groups of stone formers. Family and twin studies have shown that the stone transmission pattern is not mendelian, but complex and polygenic. In these studies, heritability of calcium stones was calculated around 50%</p> <p>Calcium-sensing receptor (CaSR) is mostly expressed in the parathyroid glands and in renal tubules. It regulates the PTH secretion according to the serum calcium concentration. In the kidney, it modulates electrolyte and water excretion regulating the function of different tubular segments. In particular, CaSR reduces passive and active calcium reabsorption in distal tubules, increases phosphate reabsorption in proximal tubules and stimulates proton and water excretion in collecting ducts. Therefore, it is a candidate gene for calcium nephrolithiasis.</p> <p>In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899). This result was replicated in patients with primary hyperparathyroidism, comparing patients with or without kidney stones. Bioinformatic analysis suggested that the minor alleles at these polymorphisms were able to modify the binding sites of specific transcription factors and, consequently, CaSR expression.</p> <p>Our studies suggest that CaSR is one of the candidate genes explaining individual predisposition to calcium nephrolithiasis. Stone formation may be favored by an altered CaSR expression in kidney medulla involving the normal balance among calcium, phosphate, protons and water excretion.</p> |
| first_indexed | 2024-12-17T12:26:00Z |
| format | Article |
| id | doaj.art-d21ce9245dd54f68afa452646421c21b |
| institution | Directory Open Access Journal |
| issn | 1479-5876 |
| language | English |
| last_indexed | 2024-12-17T12:26:00Z |
| publishDate | 2011-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Translational Medicine |
| spelling | doaj.art-d21ce9245dd54f68afa452646421c21b2022-12-21T21:48:45ZengBMCJournal of Translational Medicine1479-58762011-11-019120110.1186/1479-5876-9-201Calcium-sensing receptor and calcium kidney stonesVezzoli GiuseppeTerranegra AnnalisaRainone FrancescoArcidiacono TeresaCozzolino MarioAloia AndreaDogliotti ElenaCusi DanieleSoldati Laura<p>Abstract</p> <p>Calcium nephrolithiasis may be considered as a complex disease having multiple pathogenetic mechanisms and characterized by various clinical manifestations. Both genetic and environmental factors may increase susceptibility to calcium stones; therefore, it is crucial to characterize the patient phenotype to distinguish homogeneous groups of stone formers. Family and twin studies have shown that the stone transmission pattern is not mendelian, but complex and polygenic. In these studies, heritability of calcium stones was calculated around 50%</p> <p>Calcium-sensing receptor (CaSR) is mostly expressed in the parathyroid glands and in renal tubules. It regulates the PTH secretion according to the serum calcium concentration. In the kidney, it modulates electrolyte and water excretion regulating the function of different tubular segments. In particular, CaSR reduces passive and active calcium reabsorption in distal tubules, increases phosphate reabsorption in proximal tubules and stimulates proton and water excretion in collecting ducts. Therefore, it is a candidate gene for calcium nephrolithiasis.</p> <p>In a case-control study we found an association between the normocitraturic stone formers and two SNPs of CaSR, located near the promoters region (rs7652589 and rs1501899). This result was replicated in patients with primary hyperparathyroidism, comparing patients with or without kidney stones. Bioinformatic analysis suggested that the minor alleles at these polymorphisms were able to modify the binding sites of specific transcription factors and, consequently, CaSR expression.</p> <p>Our studies suggest that CaSR is one of the candidate genes explaining individual predisposition to calcium nephrolithiasis. Stone formation may be favored by an altered CaSR expression in kidney medulla involving the normal balance among calcium, phosphate, protons and water excretion.</p>http://www.translational-medicine.com/content/9/1/201calciumkidney stonescalcium-sensing receptor |
| spellingShingle | Vezzoli Giuseppe Terranegra Annalisa Rainone Francesco Arcidiacono Teresa Cozzolino Mario Aloia Andrea Dogliotti Elena Cusi Daniele Soldati Laura Calcium-sensing receptor and calcium kidney stones Journal of Translational Medicine calcium kidney stones calcium-sensing receptor |
| title | Calcium-sensing receptor and calcium kidney stones |
| title_full | Calcium-sensing receptor and calcium kidney stones |
| title_fullStr | Calcium-sensing receptor and calcium kidney stones |
| title_full_unstemmed | Calcium-sensing receptor and calcium kidney stones |
| title_short | Calcium-sensing receptor and calcium kidney stones |
| title_sort | calcium sensing receptor and calcium kidney stones |
| topic | calcium kidney stones calcium-sensing receptor |
| url | http://www.translational-medicine.com/content/9/1/201 |
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