Mayo Clinic
Recent investigations from this group have identified that genetic variants of genes associated with monogenic forms of nephrolithiasis are expressed in idiopathic calcium oxalate kidney stone patients and could influence stone forming risk. Utilizing patient samples from the Mayo Clinic Florida Kidney Stone Registry, we will demonstrate that expression of these heterozygous mutations in idiopathic nephrolithiasis act as genetic modifiers of disease presentation increasing risk of kidney stone formation. Complimented by the analysis of environmental and lifestyle risk factors, these studies will define environmental and genetic susceptibility factors involved in kidney stone formation and reoccurrence.
Nephrolithiasis occurs in approximately 1 in 10 individuals in the United States with increasing prevalence noted over the past three decades (ref: Worcester E, Coe F. Nephrolithiasis. Prim Care Clin Office Pract 35 (2008) 369-391). Recurrence is common - occurring in more than 50% of these patients, many of whom require surgical intervention. An estimated 5-6 billion dollars a year is spent on the treatment of kidney stones. Symptoms of kidney stones include flank pain, blood in the urine, and nausea and vomiting. Beyond acute attacks associated with considerable morbidity and cost, recent re…
Inclusion Criteria: Cases: * History of calcium oxalate stones * 18 years of age or older * Willing to provide a blood sample, and questionnaire Controls: * 18 years of age or older * No personal history of urolithiasis * Willing to provide a blood sample and questionnaire Exclusion Criteria: Cases: * Secondary causes of urolithiasis including: Bowel disease, Renal tubular acidosis, hyperparathyroidism
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