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Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report

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Author(s)
Seok Jin KangRosie LeeHeung Sik Kim
Keimyung Author(s)
Kang, Seok JinKim, Heung Sik
Department
Dept. of Pediatrics (소아청소년학)
Journal Title
Annals of Pediatric Endocrinology & Metabolism
Issued Date
2019
Volume
24
Issue
1
Keyword
HypercalcemiaHypercalciuriaHypophosphatemiaVitamin D
Abstract
Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. She presented with hypercalcemia, hypercalciuria, low intact parathyroid hormone level, and high 1,25-dihydroxyvitamin D3 level. Exome sequencing identified novel compound heterozygous mutations in SLC34A1 (c.1337G>A, c.1483C>T). The patient was treated with fluids for hydration, furosemide, a corticosteroid, and restriction of calcium/vitamin D intake. At the age of 7 months, the patient's calcium level was within the normal range, and hypercalciuria waxed and waned. Renal echogenicity improved on the follow-up ultrasonogram, and developmental delay was not noted. In cases of hypercalcemia with subsequent hypercalciuria, DNA analysis for SLC34A1 gene mutations and CYP24A1 gene mutations should be performed. Further studies are required to obtain long-term data on hypercalciuria and nephrocalcinosis.
Keimyung Author(s)(Kor)
강석진
김흥식
Publisher
School of Medicine (의과대학)
Citation
Seok Jin Kang et al. (2019). Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report. Annals of Pediatric Endocrinology & Metabolism, 24(1), 64–67. doi: 10.6065/apem.2019.24.1.64
Type
Article
ISSN
2287-1292
Source
https://e-apem.org/journal/view.php?doi=10.6065/apem.2019.24.1.64
DOI
10.6065/apem.2019.24.1.64
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/41976
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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