University of Texas Southwestern Medical Center – Hypercalciuria

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The hypothesis of this study proposal is that pediatric urinary stone formers have genetic
risk factors which predispose their urinary stone production. 50-60% of pediatric stone
patients have a positive family history of urinary stone disease. Several genetic mutations
have been identified which predispose patients to various types of urinary stones. These
genetic mutations can also lead to other significant sequela besides stones, including
osteopenia/osteoporosis (bone loss). Furthermore, metabolic abnormalities can be identified
in more than 50% of pediatric stone formers, some of which can be improved/alleviated with
medical intervention to help decrease rate of stone formation and the need for
hospitalization and surgical intervention.