A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass (vol 45, pg 291, 2016)

被引：3

作者：

Ferraro, Pietro Manuel ^{[1
]}

Minucci, Angelo ^{[2
]}

Primiano, Aniello ^{[2
]}

De Paolis, Elisa ^{[2
]}

Gervasoni, Jacopo ^{[2
]}

Persichilli, Silvia ^{[2
]}

Naticchia, Alessandro ^{[1
]}

Capoluongo, Ettore ^{[2
]}

Gambaro, Giovanni ^{[1
]}

机构：

[1] Univ Cattolica Sacro Cuore, Div Nephrol, Inst Internal Med & Geriatr, Fdn Policlin Univ A Gemelli, I-00168 Rome, Italy

[2] Univ Cattolica Sacro Cuore, Lab Clin Mol & Personalized Diagnost, Inst Biochem & Clin Biochem, Fdn Policlin Univ A Gemelli, Rome, Italy

来源：

UROLITHIASIS | 2017年 / 45卷 / 03期

关键词：

Genetics; Hypercalciuria; Osteoporosis; Urolithiasis; Vitamin D;

D O I：

10.1007/s00240-016-0940-3

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：295 / 295

页数：1