Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature

Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin … Leggi tutto

The Case | Hypercalcemia in a 60-year-old male

Hypercalcemia (3.0mmol/l), elevated parathyroid hormone concentrations (PTH, C-assay, 49pg/ml), and hypercalciuria (10.0mmol/24h) were found in 1983 in a 31-year-old male, who at that time presented with kidney stones and moderate nephrocalcinosis. Given the combination of high serum calcium along with elevated PTH, primary hyperparathyroidism was diagnosed, and the patient underwent partial parathyroidectomy in 1984 (histology … Leggi tutto

La carbamazepina antagonizza la soppressione di vitamina D-mediata dell’iperparatiroidismo secondario: patogenesi e possibilità terapeutiche

Carbamazepin antagonizes the vitamin D-mediated suppression of secondary hyperparathyroidism: pathogenesis and therapeutical options Abstract. This commentary updates: 1) the patophisiology responsible for carbamazepine-induced resistance to paricalcitol suppression of PTH in CKD; 2) the contribution of vitamin D deficiency to the adverse effects of carbamazepine; 3) the benefits of cholecalciferol supplementation either alone or in combination … Leggi tutto

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined.  … Probands had recurrent nephrolithiasis, chronic hypercalcaemia with depressed parathyroid hormone (PTH) and increased 1,25(OH)2D levels; carriers had nephrolithiasis (two of … Leggi tutto

LITHORISK.COM: the novel version of a software for calculating and visualizing the risk of renal stone

Estimation of state of saturation with stone-forming salt represents a reliable tool to assess the overall risk. The available methods are based on computer-assisted ab initio calculations. Our earlier method URSUS was subsequently substituted by Lithorisk®, a software including visualization of risk profiles…  After digiting input variables (urea and creatinine also included) in a fixed … Leggi tutto

Altered Serum Uric Acid Levels in Kidney Disorders

Serum uric acid levels are altered by kidney disorders because the kidneys play a dominant role in uric acid excretion. Here, major kidney disorders which accompany hyperuricemia or hypouricemia, including their pathophysiology, are discussed. Chronic kidney disease (CKD) and hyperuricemia are frequently associated, but recent clinical trials have not supported the pathogenic roles of hyperuricemia … Leggi tutto

Persistent Hyperparathyroidism: A Reality Calling for Additional Evidence

Editoriale AJKD Vol XX | Iss XX | Month 2022 In this issue of AJKD, Wang et al1 report on the incidence, trends, and consequences of treatment of posttransplant hyperparathyroidism in a nationwide registry encompassing 30,127 Medicare-insured US patients who received a first kidney transplant. …In clinical practice, we want to identify patients with negative … Leggi tutto


The prevalence of urolithiasis has increased worldwide over the past decades (1,2). The recently updatedguidelines on urolithiasis from the European Association of Urology (EAU) (3) represent a landmarkadvancement in the treatment of a common clinical condition because they address both the associatedrisks of urolithiasis beyond urolithiasis itself and the need for follow-up. Risks of urolithiasis … Leggi tutto

Dietary Risk Factors for Incident and Recurrent Symptomatic Kidney Stones

… Results: In fully adjusted analyses, lower dietary calcium, potassium, caffeine, phytate, and fluid intake were all associated with a higher odds of an incident symptomatic kidney stone. Among incident stone formers, 73 experienced symptomatic recurrence during a median 4.1 years of followup. Adjusting for body mass index, fluid intake, and energy intake, lower dietary … Leggi tutto