Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2014

Colussi Giacomo, Ganon Liat, Penco Silvana, De Ferrari Maria Elisabetta, Ravera Federica, Querques Marialuisa, Primignani Paola, Holtzman Eli J, Dinour Dganit

Abstract excerpt

BACKGROUND: Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined. METHODS: We describe two adult p...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Case-Control Studies
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Hypercalcemia

Share to Kidney Failure, Chronic

Share to Parathyroid Hormone

Share to Pedigree

Share to Vitamin D3 24-Hydroxylase

Source

Identifiers

PMID: 24235083
DOI: 10.1093/ndt/gft460

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24235083-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.PMID 24235083Read ↗

Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.Semantic proximity Read ↗

Therapy-Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism.Semantic proximity Read ↗

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.Semantic proximity Read ↗

Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.Semantic proximity Read ↗

Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.Semantic proximity Read ↗

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.Semantic proximity Read ↗

Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy.Semantic proximity Read ↗

Re: Loss-of-Function Mutations of CYP24A1, the Vitamin D 24-hydroxylase Gene, Cause Long-standing Hypercalciuric Nephrolithiasis and Nephrocalcinosis.Semantic proximity Read ↗

CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.Semantic proximity Read ↗

Genetic Diseases of Vitamin D Metabolizing Enzymes.Semantic proximity Read ↗

Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?Semantic proximity Read ↗

24-Hydroxylase Deficiency Due toCYP24A1Sequence Variants: Comparison With Other Vitamin D−mediated Hypercalcemia DisordersSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.