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
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
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
Primary hyperoxaluria is a rare autosomal recessive disorder involving the overproduction of oxalate by the liver that may go undiagnosed for years. Early symptoms include nephrocalcinosisand nephrolithiasis. As kidney function worsens, systemic oxalate deposition may occur, including in the joints,bones, eyes, and skin. … n engl j med 386;10 nejm.org March 10, 2022 0
A 37-year-old man with cystinuria was seen in the nephrology clinic for routine follow-up. He had received a diagnosis of cystinuria at 1 year of age, when he had presented with nephrolithiasis and pyelonephritis; subsequent workup had shown elevated 24-hour cystine urinary excretion and homozygous variants in the gene SLC3A1. … n engl j med … 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
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
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
0Xanthinuria is a rare autosomal recessive disorder associated with a deficiencyof xanthine oxidoreductase (XOR), which normally catalyzes theconversion of hypoxanthine to uric acid. The effects of this deficit are anelevated concentration of hypoxanthine and xanthine in the blood andurine, hypouricemia, and hypouricuria. The deficit in XOR can be isolated(type I xanthinuria) or associated with a … Leggi tutto
Una review a partire da un caso clinico A 43-year-old man presents for evaluation of recurrent kidney stones. He passed his first stone 9 years earlier and has had two additional symptomatic stones. Analysis of the first and the last stones showed that they contained 80% calcium oxalate and 20% calcium phosphate. Analysis of a … Leggi tutto