Kidney Stones
Update in Diagnosis and Management
Genetic Hypercalciuria
February 2010
Idiopathic hypercalciuria is clearly genetic. It tends to run in families, affecting 50% of first degree relatives. Many of these patients behave as if they have vitamin D excess, although vitamin D levels are normal. Although these patients have a genetic cause for hypercalciuria, tubular calcium handling is further influenced by diet including sodium, protein, and sucrose. Low bone mineral density is also often present in this group of individuals, perhaps due to systemic defects in calcium handling. Although a few rare monogenic causes have been identified, as listed here, the causative gene or genes remain to be identified for the majority of affected individuals.
Genetic Hypercalciuria |
Jump to section:
- Introduction
- Kidney Stones
- Why do Kidney Stones Form?
- Genetics and Environment
- Not All Stones are Created Equal: Stone Analysis is Very Helpful
- Laboratory Evaluation
- Supersaturation Index
- Components of the Urinary Supersaturation Profile
- Uses of Urinary Supersaturation
- Common Features Increase Urinary Supersaturation in Patients with Idiopathic Calcium Oxalate Nephrolithiasis
- "Conservative" Dietary Recommendations for Calcium Oxalate Stone Formers
- Causes of Hypercalciuria
- Genetic Hypercalciuria
- Genetic Hypercalciuria: Treatment
- What is Oxalate?
- Hyperoxaluria: What is the Relevant Concentration?
- Oxalate Balance on a Typical Western Diet
- Enteric Hyperoxaluria is Caused by Fat Malabsorption
- Control of Urinary Citrate: Largely Due to Systemic Acid Base Balance
- Treatments for Enteric Hyperoxaluria
- Low Urinary Citrate
- Hyperuricosuria is a Risk Factor for Calcium Oxalate Stones
- Uric Acid is Very Insoluble at Low pH
- Calcium Phosphate is Very Insoluble at High pH!
- Cystine Stones
- Struvite stones
- Questions?
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