Genetic Disorders of Calcium and Phosphorus Metabolism

Miller, Assia; Mathew, Serina; Patel, Sneha; Fordjour, Lawrence; Chin, Vivian

doi:10.3390/endocrines3010014

Cited by 3 publications

(2 citation statements)

References 68 publications

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“…The renal ultrasound showed bilateral medullary nephrocalcinosis (Figure 1). (CYP24A1) [5][6][7]. Loss-of-function mutations in the CYP24A1 gene can lead to an increased action due to the accumulation of active 1,25-(OH)2-vitamin D3.…”

Section: Case Report Of Iih Type 1 Phenotypementioning

confidence: 99%

“…In the kidney, a second hydroxylation by 1α-hydroxylase (CYP27B1) creates the active form 1,25-dihydroxyvitamin D3 (1,25-(OH)2-vitamin D3). CYP24A1 is responsible for the five-step oxidation pathway from 1,25-(OH)2-vitamin D3 to the soluble calcitroic acid by inactivating the 24-hydroxylase (CYP24A1) [5][6][7]. Loss-of-function mutations in the CYP24A1 gene can lead to an increased action due to the accumulation of active 1,25-(OH)2-vitamin D3.…”

Section: Introductionmentioning

confidence: 99%

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Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Bizerea-Moga,

Chisavu,

Ilies

et al. 2023

Children

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Idiopathic infantile hypercalcemia (IIH) is a rare genetic disease, also called hypersensitivity to vitamin D3. The molecular heterogeneity allows for the differentiation between the two forms; IIH type 1 caused by CYP24A1 genetic variants and IIH type 2 associated with SLC43A1 mutations. The affected individuals express a variety of symptoms: hypercalcemia, hypercalciuria, suppressed intact parathormone levels (PTH), nephrocalcinosis, elevated levels of serum 1,25 (OH)2-vitamin D3 or inappropriately normal levels, and kidney phosphate wasting. The present paper describes three cases of IIH with heterozygous mutations in SLC43A1 and CYP24A1 genes, respectively. The genetic diagnosis is of paramount importance for proper treatment and the prediction of long-term outcomes.

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Section: Case Report Of Iih Type 1 Phenotypementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Bizerea-Moga,

Chisavu,

Ilies

et al. 2023

Children

View full text Add to dashboard Cite

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Disorders related to calcium

Jacobsen,

Bruggeman,

Winter

2024

Quick Guide to Endocrinology

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Root resorptions induced by genetic disorders: A systematic review

Dupre,

Riou,

Isaac

et al. 2024

Oral Diseases

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ObjectivesRoot resorption in permanent teeth is a common pathological process that often follows dental trauma or orthodontic treatment. More rarely, root resorption is a feature of genetic disorders and can help with diagnosis. Thus, the present review aims to determine which genetic disorders could induce pathological root resorptions and thus which mutated genes could be associated with them.MethodsWe conducted a systematic review following the PRISMA guidelines. Articles describing root resorptions in patients with genetic disorders were included from PubMed, Embase, Web of Science, and Google Scholar. We synthesized the genetic disorder, the type, severity, and extent of the resorptions, as well as the other systemic and oral symptoms and histological features.ResultsThe synthetic analysis included 25 studies among 937 identified records. We analyzed 21 case reports, three case series, and one cohort study. Overall, we highlighted 14 different pathologies with described root resorptions. Depending on the pathology, the sites of resorption, their extent, and their severity showed differences.ConclusionWith 14 genetic pathologies suspected to induce root resorptions, our findings are significant and enrich a previous classification. Among them, three metabolic disorders, three calcium–phosphorus metabolism disorders, and osteolysis disorders were identified.

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Genetic Disorders of Calcium and Phosphorus Metabolism

Cited by 3 publications

References 68 publications

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1

Disorders related to calcium

Root resorptions induced by genetic disorders: A systematic review

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