A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass

作者：Ferraro Pietro Manuel^*; Minucci Angelo; Primiano Aniello; De Paolis Elisa; Gervasoni Jacopo; Persichilli Silvia; Naticchia Alessandro; Capoluongo Ettore; Gambaro Giovanni

来源：Urolithiasis, 2017, 45(3): 291-294.

DOI：10.1007/s00240-016-0923-4

• Genetics
• Vitamin D
• Hypercalciuria
• Osteoporosis
• Urolithiasis

Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male patient with recurrent nephrolithiasis, nephrocalcinosis, hypercalcemia with low parathyroid hormone levels, hypercalciuria and low bone mass. Gene sequencing showed that the patient had compound heterozygous mutations including a novel genotype of the CYP24A1 gene. Genetic CYP24A1 testing and biochemical analyses were offered to other family members; the father was heterozygous for the same novel genotype and was also affected with recurrent nephrolithiasis.

• 出版日期2017-6