In children, urolithiasis (urinary stones) accounts for 1 in 7,600 to 1,000 hospital admissions, and some reports indicate that urinary calculi are being recognized at an increasing frequency. Hypercalciuria (the excretion of abnormally large amounts of calcium in the urine) is the most common metabolic cause of urolithiasis. Hypercalciuria resulting from increased absorption of calcium from the gut, termed absorptive hypercalciuria (AH), accounts for 45% of all reported cases of stone formation. AH has long been suspected of being genetic. More than 40% of first degree relatives of patients with hypercalciuria also have a history of urolithiasis. Over the last 10 years, investigators have sought to understand the molecular basis of this presumed genetic observation.

The specific goals of this study are to:

• determine the prevalence of mutations of a new absorptive hypercalciuria (AH) gene in a population of pediatric patients with a history of calcium oxalate urinary stones

• identify pediatric stone formers, assemble their pedigrees, and ultimately perform a genome-wide screening for new genes of calcium oxalate stone disease

• follow a cohort of pediatric stone formers and their families to report the long-term recurrence rates and therapeutic outcomes of standard of care stone prevention in a pediatric population

The outcome of this study may lead to improved diagnostic methods, screening strategies, and treatment with the hope for prevention of progression of stone disease and osteoporosis.

Research Interests

Principal Investigator:

Linda Baker, M.D.: 214-648-3865

Linda.Baker@utsouthwestern.edu

For more information about the Department of Urology, contact:

Phone: 214-648-4765, FAX: 214-648-4789

Mailing Address:  5323 Harry Hines Blvd., J8.148, Dallas, TX  75390-9110