Genetic basis of renal cellular dysfunction and the formation of kidney stones

Saeed R. Khan, Benjamin K. Canales

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)169-180
Number of pages12
JournalUrological Research
Issue number4
StatePublished - Aug 2009
Externally publishedYes


  • Calcium oxalate
  • Genetics
  • Hypercalciuria
  • Hyperoxaluria
  • Hypocitraturia
  • Oxalate

ASJC Scopus subject areas

  • Urology


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