ArticleClinical kidney journal2013
Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation.
Article in Clinical kidney journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 49 citations in OpenAlex.
- French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH).Orphanet journal of rare diseases · 2026Review
- A Challenging Case of Hypercalcemia Caused by a Novel Homozygous Variant Missense Mutation in theJCEM case reports · 2026Article
- Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two PathogenicInternational journal of molecular sciences · 2025Article
- Hypercalcemia due toJBMR plus · 2025Article
- 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
- Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review.Nutrients · 2021Review
- 24-Hydroxylase Deficiency Due toJournal of the Endocrine Society · 2021Article
- Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Article
- Overlapping Phenotypes Associated WithFrontiers in endocrinology · 2021Article
- Juvenile onset IIH andBone reports · 2018Article
- A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.Urolithiasis · 2017Article
- Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.Endocrine reviews · 2016Review
- Interactions of vitamin D and the proximal tubule.Pediatric nephrology (Berlin, Germany) · 2016Review
- Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.The Journal of clinical endocrinology and metabolism · 2015Article
- Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS/MS involving derivatization with DMEQ-TAD.The Journal of clinical endocrinology and metabolism · 2014Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic infantile hypercalcaemia (IIH) is an autosomal recessively inherited disease, presented in the first year of life with hypercalcaemia, precipitated by normal amounts of vitamin D supplementation. Recently loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-metabolizing enzyme 24-hydroxylase, have been found in these patients. We describe a young man homozygous for a novel missense mutation (c.628T>C) of the CYP24A1 gene. He had suffered from severe hypercalcaemia in early childhood. At age 29 he presented with medullary nephrocalcinosis, chronic kidney disease (CKD) stage 2, microalbuminuria, mild hypertension and nephrogenic diabetes insipidus. He had mild hypercalcaemia and moderate hypercalciuria. As a novel finding, fibroblast growth factor 23 (FGF23) was elevated.
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