Observational studyThe Journal of clinical endocrinology and metabolism2021
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
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 8 papers.
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Who cites it
8 citing papers in PubMed, 10 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
- Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia.The New England journal of medicine · 2024Article
- A Case of Delayed Diagnosis of Idiopathic Infantile Hypercalcemia Due to CYP24A1 Mutation: A 10-Year Journey.Cureus · 2023Article
- Rifampin monotherapy for children with idiopathic infantile hypercalcemia.The Journal of steroid biochemistry and molecular biology · 2023Article
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents.Journal of pediatric endocrinology & metabolism : JPEM · 2023Review
- Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.The Journal of clinical endocrinology and metabolism · 2021Observational
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
contextIdiopathic infantile hypercalcemia (IIH) is an uncommon disorder with variable clinical features. The natural history and response to dietary calcium and vitamin D restriction in IIH remains unclear.
objectiveThe aim of this study is to describe the clinical and biochemical response to dietary calcium and vitamin D restriction in a genetically characterized cohort of mild IIH.
methodsThis is a longitudinal, observational cohort study of 20 children with mild IIH monitored for a median of 21months. Biochemical measures, dietary assessment, and yearly renal ultrasound results, since the time of diagnosis, were obtained and assessed prospectively every 4 to 6 months.
resultsMedian age at initial diagnosis was 4.5 months. Median levels of serum calcium (2.82 mmol/L) and 1,25 (OH)2D (192 pmol/L) were elevated, whereas serum PTH was reduced (10 ng/L). Urinary calcium:creatinine ratio was elevated for some, but not all individuals (median 1.49 mmol/mmol). All patients who were managed with a low-calcium diet showed an improvement in serum and urinary calcium measures, but the serum concentration of 1,25 dihydroxyvitamin D (1,25(OH)2D) and 1,25(OH)2D/PTH ratio remained elevated. In 2 of the 11 subjects, renal calcification worsened. There were no differences in response between individuals with CYP24A1 or SLC34A1/A3 variants.
conclusionThe clinical presentation of mild IIH is variable, and dietary calcium and vitamin D restriction does not consistently normalize elevated 1,25(OH)2D concentrations or prevent worsening of renal calcification in all cases. Therapeutic options should target the defect in vitamin D metabolism.
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