ArticleAnnals of pediatric endocrinology & metabolism2019
Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
Article in Annals of pediatric endocrinology & metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH).Orphanet journal of rare diseases · 2026Review
- Vitamin D as a cellular endocrine system: Tissue-specific microcircuits, immune reprogramming, and metabolic resistance.iScience · 2026Review
- Nephrocalcinosis in a Child with Sotos Syndrome: A Case Report of Contiguous Gene Syndrome EncompassingJournal of clinical medicine · 2025Article
- Phosphate transporters, candidate genes, and the prosecutor's fallacy.Pediatric nephrology (Berlin, Germany) · 2025Article
- Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.Pediatric nephrology (Berlin, Germany) · 2025Article
- The Intricacies of Renal Phosphate Reabsorption-An Overview.International journal of molecular sciences · 2024Review
- Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis.World journal of urology · 2024Article
- The molecular sociology of NHERF1 PDZ proteins controlling renal hormone-regulated phosphate transport.Bioscience reports · 2024Article
- Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia.The Biochemical journal · 2023Article
- Research progress on renal calculus associate with inborn error of metabolism.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review.Nutrients · 2021Review
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
- Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).Molecular biology reports · 2021Article
- Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box.International journal of molecular sciences · 2021Review
- Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.International journal of molecular sciences · 2020Review
- Multisite NHERF1 phosphorylation controls GRK6A regulation of hormone-sensitive phosphate transport.The Journal of biological chemistryArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.