Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature

Abstract

Abstract Deletions of the NaPi2a gene and mutations in the SLC34A gene should be considered in patients with atypical presentation, without phosphaturia, with mild hypo to normal phosphatemia, and nephrocalcinosis.

Keywords

• case report
• hypercalciuria
• NaPi2a gene
• nephrocalcinosis
• phosphaturia
• SLC34A gene