The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 2
Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome
Funda Baştuğ 1 ,Hülya Nalçacıoğlu 1 ,Veysel Nijat Baş 2 ,Binnaz Tekatlı-Çelik 3 ,Hasan Çetinkaya 3 ,Sibel Yel 1
1 Departments of Pediatric Nephrology, Kayseri Training and Research Hospital, Kayseri, Turkey
2 Departments of Pediatric Endocrinology, Kayseri Training and Research Hospital, Kayseri, Turkey
3 Departments of Pediatrics, Kayseri Training and Research Hospital, Kayseri, Turkey
DOI : 10.24953/turkjped.2018.02.017 Baştuğ F, Nalçacıoğlu H, Baş VN, Tekatlı-Çelik B, Çetinkaya H, Yel S. Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turk J Pediatr 2018; 60: 210-215.

Infantile hypercalcemia has been reported in 15% of infants and children with Williams-Beuren syndrome (WBS) and has generally mild clinical symptoms. However, the need for pamidronate treatment in a few infants with severe hypercalcemia associated with WBS has been reported in literature. Many disorders, such as primary hyperoxaluria, associated with nephrocalcinosis can lead to renal failure, but there are only a few reports in infants with WBS who have decreased renal function and nephrocalsinosis. We present a 23-month-old girl with WBS (confirmed with fluorescent in situ hybridization probes) who presented with acute renal failure with severe symptomatic hypercalcemia and nephrocalcinosis, which responded to two infusions of pamidronate. Keywords : hypercalcemia, renal failure, pamidronate, Williams-Beuren syndrome

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