Genetic causes of hypercalciuric nephrolithiasis.

Journal article

Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in over 35% of patients and may occur as a monogenic disorder that is more likely to manifest itself in childhood. Studies of these monogenic forms of hypercalciuric nephrolithiasis in humans, e.g. Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypoph...

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Authors: Stechman, M; Loh, N; Thakker, R

• Publication status: Published
• Journal: Pediatric nephrology (Berlin, Germany)
• Volume: 24
• Issue: 12
• Pages: 2321-2332
• Publication date: 2009-12-01
• DOI: 10.1007/s00467-008-0807-0
• EISSN: 1432-198X
• ISSN: 0931-041X
• Language: English
• Keywords: Nephrocalcinosis; Kidney Calculi; Hypophosphatemia; Mutation; Nephrolithiasis; Humans; Calcium; Magnesium Deficiency; Chloride Channels; Receptors, Calcium-Sensing; Hypercalciuria