ArticleJournal of applied genetics2017
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Article in Journal of applied genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Serum 25-hydroxyvitamin D response to vitamin D supplementation in infants: a systematic review and meta-analysis of clinical intervention trials.European journal of nutrition · 2020Pooled it
- Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.Problemy endokrinologii · 2025Article
- Vomiting, hypotonia and failure to thrive in a 12-month-old female.Paediatrics & child health · 2025Article
- Genetic deletion of the sodium phosphate cotransporter NaPi2a ameliorates heart failure in mice.Scientific reports · 2025Article
- Genetic variants predisposing to an increased risk of kidney stone disease.The Journal of clinical investigation · 2025Article
- Hereditary disorders of vitamin-D metabolism and its receptor.Hormones (Athens, Greece) · 2025Review
- 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
- Role of Genetic Testing in Kidney Stone Disease: A Narrative Review.Current urology reports · 2024Review
- The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.International journal of molecular sciences · 2024Review
- Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia.The New England journal of medicine · 2024Article
- Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant inClinical case reports · 2024Article
- Article
- Reversed cortico-medullary differentiation in the fetal and neonatal kidneys: an indicator of poor prognosis?Pediatric radiology · 2024Article
- Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant ofChildren (Basel, Switzerland) · 2023Article
- Scientific opinion on the tolerable upper intake level for vitamin D, including the derivation of a conversion factor for calcidiol monohydrate.EFSA journal. European Food Safety Authority · 2023Article
- Does the composition of urinary extracellular vesicles reflect the abundance of renal NaPflugers Archiv : European journal of physiology · 2022Article
- Vitamin D and Diseases of Mineral Homeostasis: ANutrients · 2022Article
- Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.Nutrients · 2022Review
- Characterization of a Cleavable Fusion of Human CYP24A1 with Adrenodoxin Reveals the Variable Role of Hydrophobics in Redox Partner Binding.Biochemistry · 2022Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit. D". All persons were found to carry mutations in CYP24A1 or SLC34A1, nine and two persons respectively. The changes were biallelic, with one exception. Incidence of IIH in Polish population estimated on the basis of allele frequency of recurrent p.R396W CYP24A1 variant, is 1:32,465 births. It indicates that at least a thousand homozygotes and compound heterozygotes with risk of IIH live in the country. Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. D restriction is a first indication for CYP24A1 defect (which disturbs 1,25(OH)
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