1.25OH2D3

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

Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review

Abstract: Kidney stone disease is a multifactorial condition influenced by both genetic predispositionand environmental factors such as lifestyle and dietary habits. Although different monogenic polymorphismshave been proposed as playing a causal role for calcium nephrolithiasis, the prevalenceof these mutations in the general population and their complete pathogenetic pathway is yet tobe determined. General dietary advice … 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

Hyperparathyroidism complicating CYP 24A1 mutations

CYP24A1 gene mutations induce infantile hypercalcemia, with high 1,25(OH)2D contrasting with low PTH levels. The adult phenotype is not well known. Two unrelated adult patients were referred for nephrolithiasis, hypertension, hypercalcemia, hypercalciuria, normal 25-OHD levels, and inappropriate PTH levels (22 to 92 pg/mL; N: 15–68) suggesting primary hyperparathyroidism, leading to surgery. Hypercalciuria improved despite persistent … Leggi tutto

Therapy‑Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism

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