Hypercalciuria and Calcium Stone Disease in Caucasian Patients
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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.
Condition or disease
HypercalciuriaCalcium Stone Disease
Radiation: Radiological testingGenetic: Pediatric Urologic DNA and History Repository
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Ages Eligible for Study:
4 Years to 20 Years (Child, Adult)
Sexes Eligible for Study:
Male and female English-speaking Caucasian patients >4 years of age with a history of stone formation before age 20 years, their family members, and sex- and age-matched pediatric normal volunteers will be included regardless of current age, gender, race or ethnicity.
Patients will be excluded with voiding dysfunction or metabolic disorders including renal tubular acidosis, chronic renal insufficiency, intestinal malabsorption (inflammatory bowel disease, history of ileal resection or bladder augmentation, and cystic fibrosis), hyperparathyroidism, prolonged immobilization, vitamin D excess, hpercalcemia, hypophosphatasia, Bartter's syndrome, high dose steroid therapy, prematurity, and chronic lasix use. Any child with a bleeding diathesis or who is immunocompromised will be excluded given the increased risks of drawing blood. Participants who have been on anti-seizure medication such as Topamax or other lithogenic drugs and anti-seizure medication will be excluded. Non-English speaking subjects are not eligible to participate in the study, as this study specifically focuses on English-speaking Caucasian patients based on the adult study from which this study project has been derived.
Keywords provided by University of Texas Southwestern Medical Center:
To determine the prevalence of genetic mutations in a population.
To identify stone formers with significant family history of stones.
To follow a cohort of pediatric stone formers an their families to report the long-term recurrence rats and therapeutic outcomes.
Additional relevant MeSH terms:
Pathological Conditions, Anatomical
Signs and Symptoms