Introduction: All epidemiological studies suggest that vitamin D deficiency is prevalent among the Polish general population. Since vitamin D deficiency was shown to be among the risk factors for many diseases and for all-cause mortality, concern about this problem led us to update the previous Polish recommendations. Methods: After reviewing the epidemiological evidence, case-control studies and randomized control trials (RCTs), a Polish multidisciplinary group formulated questions on the recommendations for prophylaxis and treatment of vitamin D deficiency both for the general population and for the risk groups of patients. The scientific evidence of pleiotropic effects of vitamin D as well as the results of panelists’ voting were reviewed and discussed. Thirty-four authors representing different areas of expertise prepared position statements. The consensus group, representing eight Polish/international medical societies and eight national specialist consultants, prepared the final Polish recommendations. Results: Based on networking discussions, the ranges of total serum 25-hydroxyvitamin D concentration indicating vitamin D deficiency [<20 ng/mL (<50 nmol/L)], suboptimal status [20–30 ng/mL (50–75 nmol/L)], and optimal concentration [30–50 ng/mL (75–125 nmol/L)] were confirmed. Practical guidelines for cholecalciferol (vitamin D3) as the first choice for prophylaxis and treatment of vitamin D deficiency were developed. Calcifediol dosing as the second choice for preventing and treating vitamin D deficiency was introduced. Conclusions: Improving the vitamin D status of the general population and treatment of risk groups of patients must be again announced as healthcare policy to reduce a risk of spectrum of diseases. This paper offers consensus statements on prophylaxis and treatment strategies for vitamin D deficiency in Poland.

Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by “hypersensitivity to vit. D”. All persons were found to carry mutations in CYP24A1 or SLC34A1, nine and two persons respectively. The changes were biallelic, with one exception. Incidence of IIH in Polish population estimated on the basis of allele frequency of recurrent p.R396W CYP24A1 variant, is 1:32,465 births. It indicates that at least a thousand homozygotes and compound heterozygotes with risk of IIH live in the country. Differences in mechanism of developing hypercalcemia indicate that its prevention may vary in both IIH defects. Theoretically, vit. D restriction is a first indication for CYP24A1 defect (which disturbs 1,25(OH)2D degradation) and phosphate supplementation for SLC34A1 defect (which impairs renal phosphate transport). In conclusion, we suggest that molecular testing for CYP24A1 and SLC34A1 mutations should be performed in each case of idiopathic hypercalcemia/hypercalciuria, both in children and adults, to determine the proper way for acute treatment and complications prevention.

Perhaps the role of Vitamin D supplementation has been most exhaustively studied in calcium absorption, skeletal wellbeing, muscular potency, balance and risk of falling. Nonetheless, new data has emerged and the recent research on sarcopenia makes the topic increasingly interesting. Given the socioeconomic burden of the musculoskeletal consequences of hypovitaminosis D it is vital to keep abreast with the latest literature in the field. The recommended Vitamin D supplementation dose should suffice to increase the serum 25 hydroxyvitamin D level to 30 ng/mL (75 nmol/L) and this level should be optimally maintained with a maintenance dose, particularly for those diagnosed with osteoporosis.

Background Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders (CYP24A1 mutations) or excessive generation of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (SLC34A1 mutations). The incidence rate of IH in children and the risk level for developing end-stage renal disease (ESRD) are still unknown. The aim of this study was to analyse the long-term outcome of adolescents and young adults who suffered from IH in infancy. Design Forty-two children (23 girls; average age 10.7 ± 6.3 years) and 26 adults (14 women; average age 24.2 ± 4.4 years) with a personal history of hypercalcaemia with elevated 1,25(OH)2D3 levels were included in the analysis. In all patients, a genetic analysis of possible IH mutations was conducted, as well as laboratory tests and renal ultrasonography. Results IH was confirmed in 20 studied patients (10 females). CYP24A1 mutations were found in 16 patients (8 females) and SLC34A1 in 4 patients (2 females). The long-term outcome was assessed in 18 patients with an average age of 23.8 years (age range 2–34). The average glomerular filtration rate (GFR) was 72 mL/min/1.73 m2 (range 15–105). Two patients with a CYP24A1 mutation developed ESRD and underwent renal transplantation. A GFR &lt;90 mL/min/1.73 m2 was found in 14 patients (77%), whereas a GFR &lt;60 mL/min/1.73 m2 was seen in 5 patients (28%), including 2 adults after renal transplantation. Three of 18 patients still had serum calcium levels &gt;2.6 mmol/L. A renal ultrasound revealed nephrocalcinosis in 16 of 18 (88%) patients, however, mild hypercalciuria was detected in only one subject. Conclusions Subjects who suffered from IH have a greater risk of progressive chronic kidney disease and nephrocalcinosis. This indicates that all survivors of IH should be closely monitored, with early implementation of preventive measures, e.g. inhibition of active metabolites of vitamin D3 synthesis.

Introduction: The numerous evidence showing spectrum of vitamin D effects on human health resulted in both updates of vitamin D supplementation guidelines for general population and concerns on potential risk of hypercalcaemia. The aim of this study was to analyse trends in serum 25-hydroxyvitamin D concentration (25(OH)D) change over the 30 years of operation of a single pediatric diagnostic unit.Materials and methods: Calcium-phosphate metabolism markers and 25(OH)D concentrations were analyzed in a group that consisted of newborns and infants commissioned for diagnostics due to suspected calcium-phosphate metabolic disturbances (n = 3,163; mean age 8.0 ± 3.0 months).Results: 25(OH)D < 10 ng/ml was noted in 4.5% of patients (n = 163), 10–20 ng/ml in 14.7% (n = 465), 20–30 ng/ml in 23.9% (n = 756) and 30–50 ng/ml in 35.9% (n = 1,136). The mean 25(OH)D concentration in analyzed group was 37.5 ± 24.5 ng/ml. In patients with 25(OH)D concentration < 10 ng/ml a normal calcaemia (2.25–2.65 mmol/l) was noted in 83.4% cases (n = 136). Eighty one patients had 25(OH)D concentrations above 100 ng/ml with co-existing calcaemia in range of 2.6–4.38 mmol/l (mean Ca = 2.69 mmol/l). Hypocalcaemia (Ca < 2.25 mmol/l) was observed in 0.54%, (n = 17). 13.8% patients revealed calcium levels >2.65 mmol/l (n = 435). In general, the mean calcium-phosphate markers values were within the reference range for age. The highest mean 25(OH)D concentration of 51.8 ng/ml ± 38.8 was noted in years 1981–1999 (n = 305). The lowest mean 25(OH)D value was observed in years 2010–2011 (29.0 ng/ml ± 13.6; n = 412). The trend of decreasing 25(OH)D concentration during analyzed time period was significant (r = −0.29, p < 0.0001).Conclusions: Eighty percentage of children aged 0–36 months had 25(OH)D concentration >20 ng/ml, however, during 3 decades a mean 25(OH)D concentrations trended significantly to decrease. A direct relationship between low 25(OH)D concentration and hypocalcaemia was not observed nor between high 25(OH)D concentration and hypercalcemia.