Loss of function mutations in the CYP24A1 gene, involved in vitamin D catabolism and in calcium homeostasis, are known to be the genetic drivers of both idiopathic infantile hypercalcemia (IIH) and adult renal stone disease. Recently, also defects in the SLC34A1 gene, encoding for the renal sodium-phosphate transporter NaPi-IIa, were associated with the disease. IIH … Leggi tutto
Objective and design: The prevalence and the effects of hypercalciuria on bone in patients with primaryosteoporosis are poorly defined. We therefore retrospectively analyzed the data of 241 otherwisehealthy women. They were 45–88 years of age and had been referred for their first visit to ourUnit for Metabolic Bone Diseases over a 2-year period because of … Leggi tutto
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
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
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
Un corso on line, oramai non più FAD, sulla Fisiopatologia della Calcolosi Renale. GLi AA sono la sicurezza che il corso vale assolutamente la pena di essere visto. https://medicalfree.it/corso/fisiopatologia-della-calcolosi-renale Marco Lombardi
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
Case report: A 32-year-old truck driver had previously been treated with allopurinol because of hyperuricaemia and gouty =Protein consumption (g/day) arthritis. After having first formed a kidney stone at (adapted from [5]); age 20, he had passed calculi annually for 8 years before he finally underwent ESWL for bilateral radio- it amounted to 108.1 g … Leggi tutto
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
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