Genetic causes of kidney stones and kidney failure

Lada Beara-Lasic, Vidar O. Edvardsson, Runolfur Palsson, John C. Lieske, David S. Goldfarb, Dawn S. Milliner

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Genetics plays an important role in establishing susceptibility to nephrolithiasis, although diet and other environmental factors make major contributions. In a small number of patients, the genetic causes of stones are more clearly established. Four of these hereditary diseases include primary hyperoxaluria, Dent disease, cystinuria, and adenine phosphoribosyltransferase deficiency, which results in 2,8-dihydroxyadenine stones. Patients with these disorders often experience recurring stones from early childhood, requiring frequent hospitalizations and procedures. They are at risk of kidney damage and chronic kidney disease. Because of their rarity, these four disorders are difficult to study and recognize. This in turn slows progress toward effective therapies and increases the risk of misdiagnosis or diagnosis late in the course of the disease. Therefore, patients may experience unnecessary and harmful treatments and accelerated loss of kidney function. In this article, we will review the pathogenesis, clinical presentation, diagnosis of and treatments for these four disorders.

Original languageEnglish (US)
Pages (from-to)2-18
Number of pages17
JournalClinical Reviews in Bone and Mineral Metabolism
Issue number1
StatePublished - Mar 2012


  • Adenine phosphoribosyltransferase deficiency
  • Cystinuria
  • Dent disease
  • Dihydroxyadenine
  • Nephrolithiasis
  • Primary hyperoxaluria
  • Urolithiasis

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine
  • Endocrinology


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