Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to pathogenic variants in the cytochrome P450 24 subfamily A member 1 (CYP24A1). Rifampin is an antituberculosis drug that is a potent inducer of cytochrome P450 3 subfamily A member 4, which is involved in … Leggi tutto
Nephrolithiasis remains a formidable health problem in the United States and worldwide. A very important butunderaddressed area in nephrolithiasis is the accompanying bone disease. Epidemiologic studies have shown that osteoporotic fractures occur more frequently in patients with nephrolithiasis than in the general population. Decreased bone mineral density and defects in bone remodeling are commonly encountered … Leggi tutto
Context: Diabetes mellitus is a risk factor for nephrolithiasis. A recent observational study found that in patients with type 2 diabetes (T2D), SGLT2 inhibitor use was associated with a 49% lower risk of nephrolithiasis compared with GLP-1 receptor agonists. Objective: We examined the association between nephrolithiasis and the SGLT2 inhibitor empagliflozin, using existing data from … Leggi tutto
… Results We identified 24,290 and 19,576 eligible users of SGLT2Is and GLP1 RAs, respectively. After matching, 12,325 patient pairs remained. The median age was 61 years and median follow-up was 2.0 years. The nephrolithiasis rate was 2.0 per 1000 person-years in SGLT2I initiators compared with 4.0 per 1000 person-years in GLP1 RA initiators, with a rate … Leggi tutto
La storia naturale della calcolosi urinaria è quella di una patologia che tende a recidivare e che può associarsi ad aumentato rischio di malattia renale cronica, ossea e cardiovascolare. Per questo una ampia valutazione clinico-metabolica del paziente è di grande importanza sin dalla prima presentazione della calcolosi, allo scopo di impostare un appropriato trattamento preventivo. … Leggi tutto
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La nefrolitiasi è una malattia diffusa nella popolazione generale con una prevalenza in aumento negli ultimi anni. La sua rilevanza clinica è gravata dalla tendenza a recidivare comportando così un rischio aggiuntivo di complicanze sia renali (fino alla malattia renale cronica) che extrarenali (come la malattia metabolica dell’osso). D’altra parte l’inquadramento clinico della malattia può … Leggi tutto
The incidence of adult urolithiasis has increased significantly in industrialized countries over the past decades. Sound incidence rates are not available for children, nor are they known for nephrocalcinosis, which can appear as a single entity or together with urolithiasis. In contrast to the adult kidney stone patient, where environmental factors are the main cause, … Leggi tutto
We describe a case harboring a homozygous CYP24A1 mutation with mild loss of function, frst presenting with recurrent nephrolithiasis from the age of 22 onward, initially associated with hypercalcemia and low PTH concentrations. Over the years, hyperparathyroidism developed, resulting in more severe hypercalcemia. Also, kidney function deteriorated, most probably as a consequence of biopsy-proven nephrocalcinosis. … Leggi tutto