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

Authors
Seok Jin KangRosie LeeHeung Sik Kim
Department
Dept. of Pediatrics (소아청소년학)
Issue Date
2019
Citation
Annals of Pediatric Endocrinology & Metabolism, Vol.24(1) : 64-67, 2019
ISSN
2287-1292
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.
Keywords
HypercalcemiaHypercalciuriaHypophosphatemiaVitamin D
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/41976
Appears in Collections:
1. Journal Papers (연구논문) > 1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
Keimyung Author(s)
강석진; 김흥식
Full Text
https://e-apem.org/journal/view.php?doi=10.6065/apem.2019.24.1.64
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