Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.

ABSTRACT: Renal phosphate transporters NaPi-IIa (SLC34A1) and NaPi-IIc (SLC34A3) play a crucial role in phosphate reabsorption in the proximal tubule. Biallelic loss-of-function variants in SLC34A1 and SLC34A3 cause two rare phosphate-wasting tubulopathies: idiopathic infantile hypercalcemia (IIH) and hereditary hypophosphatemic rickets with hypercalciuria, respectively. The phenotypes associated with these diseases are highly variable and sometimes overlap. Here, we report a rare case of a six-month-old girl of consanguineous parents with symptoms related to these diseases, including failure to thrive, nephrocalcinosis, hypercalcemia, hypophosphatemia with low TRP, elevated levels of 1,25-(OH)₂D₃, and suppressed PTH. An exome sequencing analysis was

SUBMITTER: Mura-Escorche G 

PROVIDER: S-EPMC12428849 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature