QJM 2005 98(4):241-246; doi:10.1093/qjmed/hci041
The Author 2005. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Idiopathic urinary stone disease: possible polygenic aetiological factors
R.W.E. Watts
From the Renal Section, Division of Medicine, Imperial College, London, UK
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Introduction
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About 12% of men and 5% of women of Western European descent
develop at least one urinary stone during their lifetime. The
incidence is somewhat less in individuals of sub-Saharan African
or Asian descent, although there is a high incidence in the
Middle Eastern countries. Calcium oxalate is a major constituent
of about 70% of these stones. They are of multifactorial origin,
with both genetic and environmental factors involved. The genetic
factors influence different components of a highly complex system
whereby calcium oxalate, which has a very low solubility in
water, remains in solution. When the system is perturbed, the
calcium oxalate crystallizes, the crystals aggregate and stones
form. The genetic factors operate through mechanisms that are
less obvious than the environmental ones such as the patient's
state of hydration and dietary effects on the concentrations
of the relevant ionic species.
It is now generally accepted that the crystallization process . . . [Full Text of this Article]
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Calcium
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The calcium-sensing receptor
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X-linked calcium oxalate urolithiasis syndromes
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Vitamin D synthesis as a possible factor in urinary stone formation
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Oxalate metabolism
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Nephrocalcin
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Osteopontin
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The Tamm-Horsfall glycoprotein (uromodulin)
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Prothrombin fragment 1 (UPTF1)
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The glycosaminoglycans
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Bikunin
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Address correspondence to Dr R.W.E. Watts, Renal Section, Division of Medicine, Imperial College, London, Hammersmith Campus, Du Cane Road, London W12 0NN

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