INTRODUCTION: The incidence of pediatric nephrolithiasis (kidney stones) has been increasing over the past several years. While environmental factors, such as poor fluid intake, high-salt diet, and obesity, can play a role, underlying metabolic factors account for at least one-third of cases of nephrolithiasis. Nephrolithiasis and related disorders, such as nephrocalcinosis and hypercalciuria, can lead to long-term kidney problems, including renal scarring, acute and chronic kidney disease, decreased renal function, or end-stage renal disease. The best treatment is prevention and is best guided by knowing the underlying cause. The majority of kidney stones are primarily comprised of calcium, and abnormal calcium metabolism and regulation can lead to nephrolithiasis, nephrocalcinosis, and hypercalciuria. Vitamin D is an important factor in calcium regulation in the body. The physiologically active form of vitamin D is 1α,25-dihydroxyvitamin D (1,25(OH)2D), which increases serum calcium by stimulating intestinal absorption of calcium, increasing renal calcium reabsorption, and mobilizing calcium from bone. Excess 1,25(OH)2D has been shown to be associated with hyperabsorption of calcium in the intestine, nephrolithiasis, hypercalcemia, and hypercalciuria. Production of 1,25(OH)2D requires hydroxylation of 25-hydroxyvitamin D by the kidney enzyme 1α-hydroxylase, which is regulated in turn by serum calcium, parathyroid hormone (PTH), and by 1,25(OH)2D itself. Tight control of 1,25(OH)2D levels is maintained in part by the breakdown of 1,25(OH)2D by the enzyme 24-hydroxylase, which is encoded by the gene CYP24A1. In the past few years, CYP24A1 mutations leading to decreased activity of 24-hydroxylase have been implicated in some cases of idiopathic infantile hypercalcemia as well as nephrolithiasis, nephrocalcinosis, and hypercalciuria. The prevalence of 24-hydroxylase deficiency is not known, and the spectrum of its clinical manifestations is not yet fully understood. Our study aims to describe the clinical characteristics of patients with laboratory findings suggestive of 24-hydroxylase deficiency, specifically high-normal or elevated serum 1,25(OH)2D. We aimed to determine the prevalence of elevated 1,25(OH)2D among pediatric patients with nephrolithiasis, and to compare clinical outcomes and biochemical findings in patients with normal versus elevated 1,25(OH)2D. PATIENTS AND METHODS: This study was a retrospective chart review. To determine the prevalence of high-normal (56-75 pg/mL) and high (>75 pg/mL) serum 1,25(OH)2D, we reviewed electronic medical records of patients seen in the Boston Children's Hospital Stone Clinic. We identified 346 patients who were evaluated for nephrolithiasis, were under 18 years of age at the time of presentation, and had at least one measurement of 1,25(OH)2D. Patients were classified based on their highest measured level of 1,25(OH)2D. To determine the clinical characteristics of patients with elevated 1,25(OH)2D, we reviewed clinical records and laboratory data of patients at Boston Children's Hospital with a diagnosis of nephrolithiasis, nephrocalcinosis, or hypercalciuria. We identified 83 patients who met our inclusion criteria: age of onset <18 years, at least one measurement of 1,25(OH)2D, and a pre-treatment urine solute analysis. Data collected included demographic information, diagnoses, family history of kidney disease, treatments, laboratory data, and urine solute analyses. We compared findings in patients with normal 1,25(OH)2D (≤55 pg/mL) versus elevated 1,25(OH)2D (>55 pg/mL). RESULTS: Of 346 children with nephrolithiasis in whom 1,25(OH)2D was measured, 100 (28.9%) had high 1,25(OH)2D, and an additional 120 (34.7%) had high-normal 1,25(OH)2D. To determine the clinical characteristics of elevated 1,25(OH)2D, we analyzed the data of 40 patients with normal 1,25(OH)2D and 43 patients with elevated 1,25(OH)2D who had a history of nephrolithiasis, nephrocalcinosis, or hypercalciuria. Seventy-five children had nephrolithiasis, and 25/37 (67.6%) of children with elevated 1,25(OH)2D had a recurrence of nephrolithiasis, compared to only 9/38 (23.7%) of children with normal 1,25(OH)2D (p < .001). Urine calcium/creatinine ratio did not differ between the two groups. However, linear regression analysis showed an association between 1,25(OH)2D levels and urine calcium/creatinine ratio. Important secondary findings included a younger age of onset, higher serum 25-hydroxyvitamin D, and lower parathyroid hormone levels in patients with elevated 1,25(OH)2D. CONCLUSIONS: Important clinical findings of this study were the increased rate of recurrence and the younger age of onset in patients with elevated 1,25(OH)2D. While we recognize that mutations in CYP24A1 do not account for the majority of cases of elevated 1,25(OH)2D, we do advocate for special consideration for these patients. In the absence of a commercially-available assay for 24-hydroxylase activity, children with nephrolithiasis, nephrocalcinosis, or hypercalciuria and elevated 1,25(OH)2D should be closely monitored for recurrence or worsening of symptoms. Furthermore, we advise caution in the use of vitamin D repletion in at-risk patients.

Background: The interest of vitamin D has increased in the last years. That is because there is so many possible positive effects of vitamin D and also because many individuals has vitamin D deficiency. Modern man spends much time indoors which leads to lower levels of vitamin D. People who have emigrated from a sunny climate to a Nordic climate often gets a deficiency due to a more pigmented skin which requires a larger amount of UVB to get an adequate synthesis of vitamin D. Aim: The aim with this study is to compare and evaluate how similar the instrument mini VIDAS measures 25(OH)D total against the current existing method cobas e 602. A discussion about if 25(OH)D total has a place in primary health care is included in the study. Method: The comparison was based on 39 samples. The samples was analyzed on cobas e 602 and mini VIDAS. A precision test was performed. External controls from DEQAS was also included in the study. The results have been presented with simple linear regression analysis, mean value, SD and CV. Results: The comparison between cobas e 602 and mini VIDAS gave a coefficient of determination of 81,34 %. mini VIDAS was closest to the external controls target values. Conclusion: There is no obvious conclusions about if mini VIDAS fulfills the requirement to be introduced to primary health care. The coefficient of determination of 81,34 % should be at least 95 %. However is mini VIDAS closer to the external controls target values then cobas e 602. There is factors that implies that 25(OH)D total has a place in primary health care with regards to demand, use and because many individuals has vitamin D deficiency. The instrument is also user-friendly to a primary health care laboratory. / Bakgrund: Intresset för vitamin D har ökat de senare åren. Det beror dels på att det finns många eventuella positiva effekter av vitamin D och dels på att många individer har brist på vitamin D. Nutidens människa spenderar mycket tid inomhus vilket leder till lägre nivåer av vitamin D. Personer som har utvandrat från ett soligt klimat till nordiskt klimat får ofta brist på grund av en mer pigmenterad hud som behöver större mängd UVB för att få en adekvat syntes av vitamin D. Syfte: Syftet med den här studien är att jämföra och utvärdera hur lika det patientnära instrumentet mini VIDAS mäter 25(OH)D total mot befintlig metod cobas e 602. Diskussion om analysen 25(OH)D total har en plats i primärvården ingår även i studien. Metod: Jämförelsen baserades på 39 st prover. Proven analyserades på cobas e 602 och mini VIDAS. Ett precisionsförsök gjordes. Externkontroller från DEQAS inkluderades även i studien. Resultaten har presenterats genom enkel linjär regressionsanalys, medelvärde, SD och CV. Resultat: Jämförelsen mellan cobas e 602 och mini VIDAS gav en förklaringsgrad på 81,43 %. mini VIDAS var närmst externkontrollernas målvärden. Slutsats: Det går inte att dra självklara slutsatser ifall mini VIDAS uppfyller kraven att införas i primärvården. Förklaringsgraden som är på 81,43 % bör vara minst 95 %. Däremot överensstämmer mini VIDAS med externkontrollerna bättre än cobas e 602. Det finns faktorer som tyder på att analysen 25(OH)D har en plats i primärvården med avseende på efterfrågan, användningsområde och antal individer med brist. Instrumentet är dessutom användarvänligt för ett primärvårdslaboratorium.

Bakgrund: Vitamin D finns i två olika former, det animaliska D3 (kolekalciferol) och det vegetabiliska D2 (ergokalciferol). Det har rått olika åsikter bland läkarkåren och allmänheten om vilken av de två formerna som är mest potent för att höja 25(OH)D-statusen i blodet, det värde som mäts för att avgöra vitamin D-halten i kroppen. Då vitamin D-brist är vanligt förekommande bland befolkningen i Norden är det viktigt att veta vilken form som har bäst effekt och som därför bör användas för att behandla och förebygga vitamin D-brist. Det har även betydelse för veganer som inte äter det animaliska D3, där rekommendationen kanske behöver ändras. Syfte: Syftet med studien var att ta reda på om det finns någon skillnad i potensen av D2 respektive D3 för att höja 25(OH)D-statusen i blodet och i så fall, att hitta möjliga orsaker till denna skillnad. Metod: Sex relevanta vetenskapliga originalartiklar, som har undersökt effekten av D2 vs. D3 på 25(OH)D-statusen i blodet, hittades i databasen PubMed. Studierna genomfördes mellan 2008 och 2017. Studiedeltagarna var vuxna friska människor. Resultat: Fyra av studierna pekade på att D3 var mer effektivt än D2 för att höja 25(OH)D-statusen. En studie kom fram till att det inte fanns någon skillnad i potensen mellan D2 och D3 och en studie visade att D2 var mer effektivt jämfört med D3 när det gällde daglig behandling med låga doser men att D3 uppvisade bättre effekt vid behandling med höga doser med två eller fyra veckors avstånd. Slutsats: Majoriteten av studierna visade en bättre effekt av D3 än D2 för att höja 25(OH)D-nivåer i blodet. De blandade resultaten samt det begränsade antalet studier och deltagare gör att det inte är möjligt att kunna komma fram till en tydlig slutsats. / Background: Vitamin D comes in two different forms, D3 from animals (cholecalciferol) and D2 from plants (ergocalciferol). There has been different opinions among physicians and the general public about which of the calciferols is more potent to raise 25(OH)D-levels in the blood, which is the value that is measured to determine the vitamin D-status in the body. Since vitamin D deficiency is common among the people of the Nordic countries it is important to know which form has the best effect and should be used to treat and prevent vitamin D deficiency. Furthermore, it is relevant for vegans who do not eat the animalic D3, where recommendations might have to be changed. Aim: The aim of the study was to find out if there were differences in potency of D2 vs. D3 to raise 25(OH)D status in the blood and if so, to find possible explanations for those differences. Methods: Six relevant original articles that examined the effect of D2 vs. D3 on 25(OH)D status in the blood, were found in the database PubMed. The studies where published between the years 2008 and 2017. The participants were healthy adults. Results: Four of the studies suggested that D3 is more effective than D2 in order to raise the 25(OH)D status. One study concluded that there is no difference in the effectiveness of D2 vs D3 and one study showed that D2 is more effective than D3 when it comes to daily treatment but that D3 has a better effect than D2 when treatment happens on a two or four weekly basis with large doses. Conclusion: Most of the articles suggested a better effectiveness of D3 than D2 to raise 25(OH)D levels in the blood. However, besides the mixed results, the number of studies and participants was too small to come to a clear conclusion.