A 45-year-old woman affected by MEN-1 syndrome with a history of bilateral nephrolithiasis due to parathyroid adenoma (primary hyperparathyroidism) and celiac disease presented to the nephrologist for recurrent episodes of renal colic and urinary passage of small stones with an unusual morphology despite previous surgical removal of the parathyroid adenoma. A complete diagnostic workup ought … Leggi tutto
Pharmacological therapy may be useful in the treatment of moderate to severe hypercalcemia in patients with infantile hypercalcemia-1 (HCINF1) due to pathogenic variants in the cytochrome P450 24 subfamily A member 1 (CYP24A1). Rifampin is an antituberculosis drug that is a potent inducer of cytochrome P450 3 subfamily A member 4, which is involved in … Leggi tutto
Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis can be difficult or delayed due to insidious development of symptoms, comorbidities and polypharmacy. Here we evaluated the diagnostic value of a specific panel of known genes implicated in tubulopathies in … Leggi tutto
Calcinosis cutis (CC) [1] is an unusual disorder characterized by calcium-phosphate deposition into cutaneous and subcutaneous tissues. There are five subtypes: dystrophic, metastatic, idiopathic, iatrogenic and calciphylaxis. In our clinical case, we describe a patient with multiple risk factors for calciphylaxis, intense widespread calcification (vessels, tendons, joints) and cutaneous calcific stone of calcium and phosphate … Leggi tutto
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
Nephrolithiasis remains a formidable health problem in the United States and worldwide. A very important butunderaddressed area in nephrolithiasis is the accompanying bone disease. Epidemiologic studies have shown that osteoporotic fractures occur more frequently in patients with nephrolithiasis than in the general population. Decreased bone mineral density and defects in bone remodeling are commonly encountered … Leggi tutto
Recent studies have shown that patients with kidney stone disease, and particularlycalcium oxalate nephrolithiasis, exhibit dysbiosis in their fecal and urinary microbiota comparedwith controls. The alterations of microbiota go far beyond the simple presence and representation ofOxalobacter formigenes, a well-known symbiont exhibiting a marked capacity of degrading dietaryoxalate and stimulating oxalate secretion by the gut … 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
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
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