Abstract
We examined 6 children with IH and their families to determine the etiology of IH. Family members were divided into 2 categories: Group 1 consisted of the 6 index cases, 5 parents with calculi and 3 siblings with unexplained hematuria; Group 2 included the remaining 15 family members without calculi or hematuria. Mean age and fasting urinary Ca (UCa mg/dL GF) were the same in Groups 1 and 2, but Group 1 had a greater calciuric response to oral Ca, higher serum Ca (mg/dL) and fasting calcitriol (pg/ml), and lower fasting parathyroid activity (cAMP: nmol/dL GF). Urinary Na, Mg, and P, serum P and calcidiol, and the renal phosphate threshold were similar in both groups and did not correlate with UCa. Conclusions: IH may arise from a primary disorder of Vitamin D metabolism leading to increased calcitriol synthesis and intestinal Ca absorption. The data do not support a renal phosphate leak or high Na intake as the cause of IH.
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