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

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.

Iranian journal of kidney diseases - 1 Mar 2013

Skalova Sylva, Cerna Lucie, Bayer Milan, Kutilek Stepan, Konrad Martin, Schlingmann Karl-Peter

Abstract excerpt

Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Pamidronate, an intravenously administered bisphosphonate, which is a potent inhibitor of bone resorption, has been reported only once for treatment IIH. We present a case of a previously healthy 5-month-old boy with IIH, where calcemia peaked to 5...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to Bone Density Conservation Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium

Share to Diagnosis, Differential

Share to Diphosphonates

Share to Hypercalcemia

Share to Steroid Hydroxylases

Share to Vitamin D3 24-Hydroxylase

Source

Identifiers

PMID: 23485543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.PMID 23485543Read ↗

Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.Semantic proximity Read ↗

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1Semantic proximity Read ↗

A Rare Cause of Hypercalcemia In Adults: Idiopathic Infantile HypercalcemiaSemantic proximity Read ↗

CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.Semantic proximity Read ↗

Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.Semantic proximity Read ↗

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.Semantic proximity Read ↗

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutationSemantic proximity Read ↗

Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.Semantic proximity Read ↗

Successful treatment of hypercalcemia in a Chinese patient with a novel homozygous mutation in the CYP24A1 gene using zoledronic acid: a case report.Semantic proximity Read ↗

A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).Semantic proximity Read ↗

Mild infantile hypercalcemia: diagnostic tests and outcomes.Semantic proximity Read ↗

Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review.Semantic proximity Read ↗

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