The estimated lifetime risk of nephrolithiasis is growing nowadays, and the formation of
kidney stones is frequently promoted by hypercalciuria. Vitamin D, and especially its active …

CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic
importance, serving to regulate the catabolism of 1, 25-(OH) 2 D, the physiologically active …

Abstract Background Bi-allelic CYP24A1 mutations can cause idiopathic infantile
hypercalcemia (IIH), adult-onset nephrocalcinosis, and possibly bone metabolism …

BACKGROUND Patients have been described with loss-of-function CYP24A1 (cytochrome
P450, family 24, subfamily A, polypeptide 1) mutations that cause a high ratio of 25 …

Background Elevated serum 1, 25-dihydroxyvitamin D (1, 25 (OH) 2D) concentrations have
been reported among cohorts of recurrent calcium (Ca) kidney stone-formers and implicated …

Loss‐of‐function mutations in the CYP24A1 protein‐coding region causing reduced 25
hydroxyvitamin D (25OHD) and 1, 25 dihydroxyvitamin D (1, 25 (OH) 2D) catabolism have …

Calcium kidney stones are common worldwide. Most are idiopathic and composed of
calcium oxalate. Calcium phosphate is present in around 80% and may initiate stone …

We present two unrelated cases of young adults with hypercalcemia, hypercalciuria, and
nephrocalcinosis. Both had suppressed intact parathyroid hormone levels and high 1, 25 …

Background: A female infant was admitted to hospital due to failure to thrive. She presented
hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D …

Гиперкальциемия, связанная с нарушением метаболизма витамина D,-редкое
аутосомно-рецессивное заболевание. Причина данной патологии заключается в …