A toddler with severe hypercalcemia and pyelonephritis: Answers

Wilbanks, Joseph; Hillyer, Jessica; Hashim, Faris; Sas, David J.; Hanna, Christian

doi:10.1007/s00467-020-04711-3

Cited by 2 publications

(2 citation statements)

References 14 publications

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“…For example, in patients confirmed with PH, definitive treatment with siRNA GO inhibition is currently available for PH1 and siRNA inhibition of LDHA is in clinical trials for treatment of PH2 and PH3. 14,16 For CYP24A1 deficiency, early restriction of dietary calcium is effective in managing hypercalcemia 61 and new agents are under investigation to enhance 24 hydroxylase activity. For patients having APRTd, oral administration of allopurinol or febuxostat is highly effective in reducing stones and preservation of kidney function.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

Cogal

Arroyo

Shah

et al. 2021

Kidney International Reports

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show abstract

Section: Discussionmentioning

confidence: 99%

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

Cogal

Arroyo

Shah

et al. 2021

Kidney International Reports

View full text Add to dashboard Cite

show abstract

“…Among those, 28 articles were excluded because they failed to identify CYP24A1 PVs as the specific cause of hypercalcemia, did not provide detailed information of their study populations or were based on clinical data that had been already published and included. Finally, 50 articles were included in the analysis, accounting for a total of 221 patients (4,6,7,8,9,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,…”

Section: Characteristics Of the Included Studiesmentioning

confidence: 99%

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review

Cappellani

Brancatella

Morganti³

et al. 2022

European Journal of Endocrinology

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Background and objectives: CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia (IIH), a large body of literature has emerged indicating heterogeneity in penetrance, symptoms, biochemistry, and treatments. The objectives of the present research work were to investigate the clinical heterogeneity of the disease, the possibility of a relevant phenotype for monoallelic carriers, and to compare the hypocalcemic effect of the available therapies. Methods: Two reviewers searched different databases for studies published between the identification of CYP24A1 variants and December 31st,2020. Eligible studies included clinical trials and reports describing carriers of CYP24A1 variants. Results: Fifty eligible studies were identified, accounting for 221 patients. Genetic data were retrieved and allele frequencies calculated. Acute hypercalcemia was the typical presentation during the first year of life (76%, P=0.0005), and nephrocalcinosis was more frequent in infancy (P<0.0001). Pregnancy was associated with symptomatic hypercalcemia in 81.8%, and high rates of obstetric complications. Monoallelic carriers displayed significant rates of nephrolithiasis (19.4%), nephrocalcinosis (4.9%), and symptomatic hypercalcemia (5.6%). The effect size of the most-used medications administered to control hypercalcemia ranged from 18 to 29%. Conclusions: CYP24A1 loss-of-function results in an age-dependent phenotype, which can be exacerbated by triggering factors, such as pregnancy. Although biallelic carriers present more significant clinical and biochemical features, monoallelic carriers have an increased risk of calcium-related conditions. The highly-variable tested therapeutic approaches did not allow to draw conclusions on preferable therapeutic regime.

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A toddler with severe hypercalcemia and pyelonephritis: Answers

Cited by 2 publications

References 14 publications

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease

Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review

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