Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
10.6065/apem.2019.24.1.64
- Author:
Seok Jin KANG
1
;
Rosie LEE
;
Heung Sik KIM
Author Information
1. Department of Pediatrics, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
Hypercalcemia;
Hypercalciuria;
Hypophosphatemia;
Vitamin D
- MeSH:
Calcitriol;
Calcium;
Dehydration;
DNA;
Exome;
Failure to Thrive;
Female;
Follow-Up Studies;
Furosemide;
Humans;
Hypercalcemia;
Hypercalciuria;
Hypophosphatemia;
Infant;
Kidney;
Nephrocalcinosis;
Parathyroid Hormone;
Reference Values;
Sodium-Phosphate Cotransporter Proteins;
Ultrasonography;
Vitamin D;
Vitamin D3 24-Hydroxylase;
Vomiting
- From:Annals of Pediatric Endocrinology & Metabolism
2019;24(1):64-67
- CountryRepublic of Korea
- Language:English
-
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.
