ArticleUrolithiasis2017
A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
Article in Urolithiasis, 2017. 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, 33 citations in OpenAlex.
- The association between the presence of kidney stones and the risk of developing osteoporosis: a NHANES-based cross-sectional study and Mendelian randomization analysis.International urology and nephrology · 2025Observational
- The Vitamin D Metabolite Diagnostic Ratio Associates With Phenotypic Traits of Idiopathic Hypercalciuria.Kidney international reports · 2024Article
- Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report.Journal of pediatric endocrinology & metabolism : JPEM · 2023Article
- Hypervitaminosis D Secondary to aJBMR plus · 2023Article
- Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.Clinical kidney journal · 2023Article
- Vitamin D and Diseases of Mineral Homeostasis: ANutrients · 2022Article
- Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review.Nutrients · 2021Review
- 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
- 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
- Idiopathic Osteoporosis and Nephrolithiasis: Two Sides of the Same Coin?International journal of molecular sciences · 2020Review
- Vitamin D testing: advantages and limits of the current assays.European journal of clinical nutrition · 2020Review
- Expression of vitamin D receptor, CYP27B1 and CYP24A1 hydroxylases and 1,25-dihydroxyvitamin DUrolithiasis · 2020Observational
- Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.Urolithiasis · 2019Review
- Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in theCase reports in endocrinology · 2019Article
- Vitamin D and its metabolites: from now and beyond.EJIFCC · 2018Article
- Tubular and genetic disorders associated with kidney stones.Urolithiasis · 2017Review
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.
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