Shock wave lithotripsy (SWL) has proven to be a highly effective treatment for the removal of kidney stones. Shock waves (SWs) can be used to break most stone types, and because lithotripsy is the only noninvasive treatment for urinary stones, SWL is particularly attractive. On the downside SWL can cause vascular trauma to the kidney … Leggi tutto
To provide a new and efcient at-the-toilet-bowl method of self-assessing urine concentration via urine color (Uc) to identify hypohydration. … Urine color was scored similarly by subjects and investigators (P=0.99). Based on receiver operating curves (ROC), the method scored fair, i.e., the area under the curve ranging 0.73–0.82, with an accuracy of participants and investigators … Leggi tutto
The European Association of Urology (EAU) Urolithiasis Guidelines Panel has prepared these guidelines to help urologists assess evidence-based management of stones/calculi in the urinary tract and incorporate recommendations into clinical practice. This document covers most aspects of the disease, which is still a cause of significant morbidity despite technological and scientific advances. The Panel is … Leggi tutto
Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three diferent forms of primary hyperoxaluria are currently … Leggi tutto
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