We present a23-month-old girl with WBS (confirmed with fluorescent in situ hybridizationprobes) who presented with acute renal failure with severe symptomatichypercalcemia and nephrocalcinosis, which responded to two infusions ofpamidronate.
📌 3 Key Takeaways
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Objective & Hypothesis:Infantile hypercalcemia has been reported in 15% of infants and children withWilliams-Beuren syndrome (WBS) and has generally mild clinical symptoms.However, the need for pamidronate treatment in a few infants with severehypercalcemia associated with WBS has been reported in literature.
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Key Findings & Data:Manydisorders, such as primary hyperoxaluria, associated with nephrocalcinosiscan lead to renal failure, but there are only a few reports in infants withWBS who have decreased renal function and nephrocalsinosis.
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Conclusion & Impact:We present a23-month-old girl with WBS (confirmed with fluorescent in situ hybridizationprobes) who presented with acute renal failure with severe symptomatichypercalcemia and nephrocalcinosis, which responded to two infusions ofpamidronate.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Infantile hypercalcemia has been reported in 15% of infants and children withWilliams-Beuren syndrome (WBS) and has generally mild clinical symptoms.However, the need for pamidronate treatment in a few infants with severehypercalcemia associated with WBS has been reported in literature. Manydisorders, such as primary hyperoxaluria, associated with nephrocalcinosiscan lead to renal failure, but there are only a few reports in infants withWBS who have decreased renal function and nephrocalsinosis. We present a23-month-old girl with WBS (confirmed with fluorescent in situ hybridizationprobes) who presented with acute renal failure with severe symptomatichypercalcemia and nephrocalcinosis, which responded to two infusions ofpamidronate.
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Cite This Article
Çetinkaya, H., Baş, V. N., Baştuğ, F., Yel, S., Nalçacıoğlu, H., Çelik, B. T. (2022). Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome. Turkish Journal of Pediatrics, Cilt: 60 - Sayı: 2, 210–215. https://ajindex.com/articles/613152
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