Genetic basis of renal cellular dysfunction and the formation of kidney stones |
| |
Authors: | Saeed R Khan Benjamin K Canales |
| |
Institution: | (1) Department of Pathology and Center for the Study of Lithiasis and Pathological Calcification, University of Florida, Gainesville, FL, USA;(2) Department of Urology, College of Medicine, University of Florida, Gainesville, FL, USA |
| |
Abstract: | Nephrolithiasis is a result of formation and retention of crystals within the kidneys. The driving force behind crystal formation
is urinary supersaturation with respect to the stone-forming salts, which means that crystals form when the concentrations
of participating ions are higher than the thermodynamic solubility for that salt. Levels of supersaturation are kept low and
under control by proper functioning of a variety of cells including those that line the renal tubules. It is our hypothesis
that crystal deposition, i.e., formation and retention in the kidneys, is a result of impaired cellular function, which may
be intrinsic and inherent or triggered by external stimuli and challenges. Cellular impairment or dysfunction affects the
supersaturation, by influencing the excretion of participating ions such as calcium, oxalate and citrate and causing hypercalciuria,
hyperoxaluria or hypocitraturia. The production and excretion of macromolecular promoters and inhibitors of crystallization
is also dependent upon proper functioning of the renal epithelial cells. Insufficient or ineffective crystallization modulators
such as osteopontin, Tamm-Horsfall protein, bikunin, etc. are most likely produced by the impaired cells. |
| |
Keywords: | Calcium oxalate Oxalate Hyperoxaluria Hypercalciuria Hypocitraturia Genetics |
本文献已被 SpringerLink 等数据库收录! |
|