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

Kidney Stone Academy

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

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

‘Bad dietary habits’ and recurrent calcium oxalate nephrolithiasis

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

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

DASH-Style Diet and 24-Hour Urine Composition

Background and objectives: We previously observed associations between a Dietary Approaches to Stop Hypertension (DASH)-style diet and large reductions in kidney stone risk. This study examined associations between a DASH-style diet and 24-hour excretions of urinary lithogenic factors. Conclusions: A DASH-style diet may reduce stone risk by increasing urinary citrate and volume. The small associations … Leggi tutto

Demographic, Dietary, and Urinary Factors and 24-h Urinary Calcium Excretion

Background and objectives: Higher urinary calcium is a risk factor for nephrolithiasis. This study delineated associations between demographic, dietary, and urinary factors and 24-h urinary calcium. Design, setting, participants, & measurements: Cross-sectional studies were conducted of 2201 stone formers (SF) and 1167 nonstone formers (NSF) in the Health Professionals Follow-up Study (men) and Nurses’ Health … Leggi tutto