The Effect of a Single High Dose of Vitamin D on Serum Levels of Its Metabolites in the Elderly

Leszczyńska, Dorota; Szatko, Alicja; Kowalski, Konrad; Raczkiewicz, Dorota; Ostrowska, Magdalena; Misiorowski, Waldemar; Zgliczyński, Wojciech; Glinicki, Piotr

doi:10.31083/j.fbl2710289

Cited by 2 publications

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References 64 publications

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“…Therefore, the measurement of this metabolite is the first screening tool for HCINF1, allowing to select subjects for further genetic tests. However, in healthy individuals, there is a positive linear correlation between the concentration of 25(OH)D 3 and 24,25(OH) 2 D 3 , which results in physiological inhibition of the production of 24,25(OH) 2 D 3 when the serum 25OHD 3 concentration falls into the vitamin D deficiency range ( 33 ). For this reason, a more accurate parameter for expressing the absence of 24,25(OH) 2 D 3 in HCINF1 patients is the ratio of 25(OH)D 3 to 24,25(OH) 2 D 3 , especially because some of these patients have a low vitamin D status ( 34 ).…”

Section: Discussionmentioning

confidence: 99%

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Leszczyńska,

Szatko,

Latocha

et al. 2024

Front. Endocrinol.

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Introduction24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild.Aim of the studyWe report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases.Case presentationWe report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC–MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively).ConclusionsThe diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC–MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.

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Section: Discussionmentioning

confidence: 99%

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Leszczyńska,

Szatko,

Latocha

et al. 2024

Front. Endocrinol.

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Lower Levels of Vitamin D Are Associated with Higher Vasoactive–Inotropic Scores in Major Cardiac Surgery

Stef,

Bodolea,

Cainap

et al. 2024

Life

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Background: The vasoactive–inotropic score (VIS) predicts unfavorable outcomes after cardiac surgery in both children and adults. In our adult population, we investigated whether preoperative levels of vitamin D can predict the VIS and whether both vitamin D and the VIS can predict adverse outcomes following major heart surgery. Methods: Between 1 October 2021 and 28 February 2022, 300 patients underwent major cardiac surgery at our institution. Eighty-three of them had their 25-OH vitamin D levels measured before surgery. For this cohort, we calculated the VIS based on doses of vasoactive and inotropic medications administered post-surgery. Utilizing receiver operating curves, the predictive accuracy of vitamin D levels and the VIS in predicting acute kidney injury was assessed. Results: The median age of the cohort was 66 (IQR 61–71) years, with 59% being male and a median BMI of 28.4 (IQR 25.2–31.6). The most common procedures were aortic valve replacement, mitral valve replacement, coronary artery bypass grafting, aortic valve and ascending aorta repair, and ASD correction. There was a significant difference in the postoperative VIS between patients with vitamin D deficiency, i.e., <20 ng/mL, and patients with vitamin D values > 20 ng/mL (3.5 vs. 1.3 p < 0.04). We also found a significant correlation between the VIS and the days of hospitalization (r = 0.335; p = 0.002), the days of stay in the intensive care unit (r = 0.547; p < 0.00001), and the mechanical ventilation time (r = 0.327; p = 0.025). Both vitamin D levels and the VIS predicted postoperative acute kidney injury (p < 0.05). Conclusions: Vitamin D deficiency is correlated with the VIS in adults undergoing major cardiac surgery. Both vitamin D levels and the VIS can predict unfavorable postoperative outcomes.

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The Effect of a Single High Dose of Vitamin D on Serum Levels of Its Metabolites in the Elderly

Cited by 2 publications

References 64 publications

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma—a case report and review

Lower Levels of Vitamin D Are Associated with Higher Vasoactive–Inotropic Scores in Major Cardiac Surgery

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