Acute renal failure due to severe hypercalcemia and nephrocalcinosis treated with two doses of pamidronate in an infant with Williams-Beuren syndrome

Abstract

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.

Williams syndrome presenting as infantile hypercalcemia with acute kidney injury: A case report

“…4 In rare cases, severe hypercalcemia in patients with WS may require additional therapies such as bisphosphonates. 5 Because pamidronate inhibits osteoclast activity in the bone, it is effectively used to treat hypercalcemia caused by various disorders. 5 In several case reports, intravenous pamidronate was used to treat severe hypercalcemia unresponsive to conventional treatments for WS-associated hypercalcemia.…”

“…5 Because pamidronate inhibits osteoclast activity in the bone, it is effectively used to treat hypercalcemia caused by various disorders. 5 In several case reports, intravenous pamidronate was used to treat severe hypercalcemia unresponsive to conventional treatments for WS-associated hypercalcemia. 5,[8][9][10][11][12][13] Similar to previous reports, hypercalcemia was effectively controlled with two doses of pamidronate in our patient.…”

“…4 Only two cases of acute kidney injury (AKI) due to hypercalcemia and nephrocalcinosis in patients with WS have been reported. 5,6 Herein, we report a rare case of WS in an infant who presented with AKI associated with severe hypercalcemia and was treated with intravenous pamidronate. Based on a literature review, we also suggest the treatment and management of severe hypercalcemia in WS, which has not been previously established.…”

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

“…However, recent research demonstrates that it is not as common as previously thought, with an of only 15% incidence among infants and children with WBS 27,28 . Primary hypercalcemia is typically present in early infancy, especially in the neonatal period, and is less common in adolescence and adulthood, where it is frequently found secondary to other health conditions (e.g., hyperparathyroidism) [26][27][28] . For pediatricians, it is especially important to consider WBS in neonates and infants when facing idiopathic hypercalcemia either with or without associated congenital heart defects 3,28,29 .…”

“…Primary hypercalcemia is typically present in early infancy, especially in the neonatal period, and is less common in adolescence and adulthood, where it is frequently found secondary to other health conditions (e.g., hyperparathyroidism) [26][27][28] . For pediatricians, it is especially important to consider WBS in neonates and infants when facing idiopathic hypercalcemia either with or without associated congenital heart defects 3,28,29 . Hypercalcemia was found in 10.5% of the patients in the study sample, and this value is lower than that described in the literature.…”