Observational studyThe Journal of clinical endocrinology and metabolism2021
Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Observational study in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH).Orphanet journal of rare diseases · 2026Review
- Breast milk-associated physiological hypercalcaemia: an observational study of clinical, biochemical and radiological outcomes.BMJ paediatrics open · 2026Observational
- Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach.Biomolecules · 2026Review
- A Characteristic Electrocardiographic Manifestation Suggests Hypercalcemia.Diagnostics (Basel, Switzerland) · 2025Article
- Identification of a Novel HomozygousInternational journal of molecular sciences · 2025Article
- Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis.Pediatric nephrology (Berlin, Germany) · 2025Article
- Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia.The New England journal of medicine · 2024Article
- An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).Kidney international · 2024Article
- Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant ofChildren (Basel, Switzerland) · 2023Article
- Rifampin monotherapy for children with idiopathic infantile hypercalcemia.The Journal of steroid biochemistry and molecular biology · 2023Article
- Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood.Frontiers in medicine · 2022Article
- Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.The Journal of clinical endocrinology and metabolism · 2021Observational
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
contextIdiopathic infantile hypercalcemia (IIH), an uncommon disorder characterized by elevated serum concentrations of 1,25 dihydroxyvitamin D (1,25(OH)2D) and low parathyroid hormone (PTH) levels, may present with mild to severe hypercalcemia during the first months of life. Biallelic variants in the CYP24A1 or SLC34A1 genes are associated with severe IIH. Little is known about milder forms.
objectiveThis work aims to characterize the genetic associations and biochemical profile of mild IIH.
methodsThis is a cross-sectional study including children between age 6 months and 17 years with IIH who were followed in the Calcium Clinic at the Hospital for Sick Children (SickKids), Toronto, Canada. Twenty children with mild IIH on calcium-restricted diets were evaluated. We performed a dietary assessment and analyzed biochemical measures including vitamin D metabolites and performed a stepwise molecular genetic analysis. Complementary biochemical assessments and renal ultrasounds were offered to first-degree family members of positive probands.
resultsThe median age was 16 months. Median serum levels of calcium (2.69 mmol/L), urinary calcium:creatinine ratio (0.72 mmol/mmol), and 1,25(OH)2D (209 pmol/L) were elevated, whereas intact PTH was low normal (22.5 ng/L). Mean 1,25(OH)2D/PTH and 1,25(OH)2D/25(OH)D ratios were increased by comparison to healthy controls. Eleven individuals (55%) had renal calcification. Genetic variants were common (65%), with the majority being heterozygous variants in SLC34A1 and SLC34A3, while a minority showed variants of CYP24A1 and other genes related to hypercalciuria.
conclusionThe milder form of IIH has a distinctive vitamin D metabolite profile and is primarily associated with heterozygous SLC34A1 and SLC34A3 variants.
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