biostudies-literatureMura-Escorche GInstituto de Salud Carlos III8541https://www.ebi.ac.uk/biostudies/studies/S-EPMC12428849biostudies-literatureUnknown26(17)Renal phosphate transporters NaPi-IIa (<i>SLC34A1</i>) and NaPi-IIc (<i>SLC34A3</i>) play a crucial role in phosphate reabsorption in the proximal tubule. Biallelic loss-of-function variants in <i>SLC34A1</i> and <i>SLC34A3</i> 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 wasInternational journal of molecular sciencesIdentification of a Novel Homozygous &lt;i&gt;SLC34A1&lt;/i&gt; Missense Mutation and a Heterozygous &lt;i&gt;SLC34A3&lt;/i&gt; Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.PMC12428849PI23/01609Mura-Escorche GLebredo-Alvarez IRamos-Trujillo EClaverie-Martin FGarcia-Suarez LCfalseIdentification of a Novel Homozygous &lt;i&gt;SLC34A1&lt;/i&gt; Missense Mutation and a Heterozygous &lt;i&gt;SLC34A3&lt;/i&gt; Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.Renal phosphate transporters NaPi-IIa (<i>SLC34A1</i>) and NaPi-IIc (<i>SLC34A3</i>) play a crucial role in phosphate reabsorption in the proximal tubule. Biallelic loss-of-function variants in <i>SLC34A1</i> and <i>SLC34A3</i> 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 was2025-01-01T00:00:00Z2025 Sep2026-04-08T19:15:50.275Z2026-04-08T12:09:29.646ZS-EPMC124288494094346110.3390/ijms26178541