以婴儿高钙血症伴急性肾损伤表现的威廉姆斯综合征：一例报告

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

作者信息

Park Esther, Kim Soon Chul

机构信息

Department of Pediatrics, Jeonbuk National University Children's Hospital, 20 Geonji-Ro, Deokjin-Gu, Jeonju, 54907, Republic of Korea.

Department of Pediatrics, Jeonbuk National University Medical School and Hospital, Jeonju, Republic of Korea.

出版信息

CEN Case Rep. 2025 Jul 8. doi: 10.1007/s13730-025-01010-4.

DOI:10.1007/s13730-025-01010-4

PMID:40627324

Abstract

Williams syndrome is an autosomal-dominant multisystem disorder. Infantile hypercalcemia has been documented in 15% of infants with Williams syndrome, and is commonly transient and mild. The need for pamidronate therapy has been reported in a few cases of Williams syndrome with severe hypercalcemia. Few cases of acute kidney injury due to severe hypercalcemia during Williams syndrome have also been recorded. We report the case of an infant with Williams syndrome who presented with acute kidney injury and severe hypercalcemia and was treated with intravenous pamidronate. In addition, we aimed to consider management strategies that maintain renal function and promote growth until adulthood.

摘要

威廉姆斯综合征是一种常染色体显性多系统疾病。15%的威廉姆斯综合征婴儿存在婴儿期高钙血症，且通常为短暂性和轻度。少数患有严重高钙血症的威廉姆斯综合征病例报告了使用帕米膦酸治疗的必要性。威廉姆斯综合征期间因严重高钙血症导致急性肾损伤的病例也有少数记录。我们报告了一例患有威廉姆斯综合征的婴儿，该婴儿出现急性肾损伤和严重高钙血症，并接受了静脉注射帕米膦酸治疗。此外，我们旨在考虑维持肾功能并促进其成长至成年期的管理策略。