caso clinico

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

Primary Hyperoxaluria

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

Concomitant Urinary Triple Phosphate and Cystine Crystals

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

‘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

Hyperparathyroidism complicating CYP 24A1 mutations

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

Therapy‑Resistant Hypercalcemia in a Patient with Inactivating CYP24A1 Mutation and Recurrent Nephrolithiasis: Beware of Concomitant Hyperparathyroidism

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

UN CASO DI XANTINURIA IN UNA PAZIENTE CON MARCATA IPOURICEMIA

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

Calcium Kidney Stones

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

A young man presenting with recurrent nephrolithiasis

In summary, this young man presented with renal impairment, low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and multiple renal cysts. Furthermore, the persistently elevated serum alkaline phosphatase level suggested abnormal bone metabolism. This phenotype was consistent with Dent’s disease. The diagnosis was confirmed by molecular analysis, revealing a mutation in the CLCN5 gene. Besides displaying the classical … Leggi tutto