Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.

ABSTRACT:

Context

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a metabolic disorder due to homozygous loss-of-function mutations in the SLC34A3 gene encoding the renal type IIc sodium-phosphate cotransporter (NaPi-IIc). The typical presentation is severe rickets and hypophosphatemia, and hypercalciuria is often discovered later or overlooked.

Objective

We sought to determine the genetic basis for severe hypercalciuria and nephrolithiasis/nephrocalcinosis in an adolescent male with elevated serum levels of calcitriol but normal serum levels of calcium and phosphorus.

Design and setting

We used PCR to analyze the SLC34A3 gene in the proband and members of his family.

Results

The proband was a compound heterozygote for two SLC34A3 missense mutations, a

SUBMITTER: Tencza AL 

PROVIDER: S-EPMC2775650 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature