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

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

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

L’ultrasonografia nella diagnosi e nel management della nefrolitiasi: stato dell’arte e prospettive future

L’iter diagnostico per giungere ad un corretto management del paziente con nefrolitiasi costituisce un tema centrale dell’attività clinica del nefrologo. Negli ultimi anni i tassi di incidenza e prevalenza della nefrolitiasi hanno mantenuto un trend in continua crescita nel mondo, mostrando una stretta correlazione con altre patologie croniche quali diabete mellito, ipertensione arteriosa, obesità, sindrome … Leggi tutto

Genetic Hypercalciuria

Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics of hypercalciuria is understanding its pathophysiology. Hypercalciuria is a complex trait. This article outlines the various factors that compromise the attempt to dissect the genetics of hypercalciuria, summarizes the clinical and experimental monogenic … Leggi tutto

2 – Nephrocalcinosis and urolithiasis in children Kidney International (2012) 82, 493–497; doi:10.1038/ki.2012.142

Correction to: Kidney International (2011) 80:1278–1291; doi:10.1038/ki.2011.336 In the above-cited article, Table 2 was published with incorrect alignment of age ranges and erroneous unit changes concerning the cystine and urate excretion levels. The urate gram units needed to be multiplied by 10. In Table 1, the diagnosis related to NPT2a mutations should read ‘Urolithiasis, osteoporosis, … Leggi tutto

Nephrocalcinosis and urolithiasis in children

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

A Perspective on the Metabolic Potential for Microbial Contributions to Urolithiasis

the diet, host metabolism, and microbial metabolism. The microbial contribution to these compounds is perhaps the most variable given the immense diversity and interindividual variability of microbes inhabiting hosts (microbiome) and the plasticity of host associated microbial communities over time. Recent analyses have found significant associations between antibiotic use and the onset of urolithiasis  as … Leggi tutto