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Urolithiasis pp 141–149Cite as

The Genetics of Kidney Stones

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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.

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Author information

Authors and Affiliations

  1. Division of Nephrology and Dialysis, Renal Program, Department of Internal Medicine and Medical Specialties, Columbus-Gemelli University Hospital, Via G. Moscati 31, Rome, 00168, Italy

    Pietro Manuel Ferraro M.D.

  2. Division of Nephrology and Dialysis, School of Medicine, Columbus-Gemelli University Hospital, Catholic University, Rome, Italy

    Giovanni Gambaro Ph.D.

Authors
  1. Pietro Manuel Ferraro M.D.
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  2. Giovanni Gambaro Ph.D.
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Corresponding author

Correspondence to Pietro Manuel Ferraro M.D. .

Editor information

Editors and Affiliations

  1. Department of Surgery Section of Urology, Aga Khan University, Stadium Road, P.O. Box 3500, Karachi, 74800, Pakistan

    Jamsheer J. Talati

  2. Karolinska Institutet, Solnavägen 1, Solna, Stockholm, 171 77, Sweden

    Hans-Goran Tiselius

  3. , Syracuse University, Crouse Hospital, 1226 East Water Street, New York, 13210, New York, USA

    David M. Albala

  4. , Department of Urology, Tongji Hospital, 1095 Jiefang Avenue, Wuhan, 430030, China, People's Republic

    ZHANGQUN YE

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© 2012 Springer-Verlag London

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Ferraro, P.M., Gambaro, G. (2012). The Genetics of Kidney Stones. In: Talati, J., Tiselius, HG., Albala, D., YE, Z. (eds) Urolithiasis. Springer, London. https://doi.org/10.1007/978-1-4471-4387-1_16

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  • DOI: https://doi.org/10.1007/978-1-4471-4387-1_16

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