A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

被引：8
作者：
Kang, Sol [1 ]
Kang, Young Kyung [1 ]
Lee, Jun Ah [1 ]
Kim, Dong Ho [1 ]
Lim, Jung Sub [1 ]
机构：
[1] Korea Canc Ctr Hosp, Clin Pediat, Seoul, South Korea
来源：
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY | 2019年 / 11卷 / 04期
关键词：
Osteopetrosis; bone density; osteoclast; sclerosis; mutation; ALBERS-SCHONBERG-DISEASE;
D O I：
10.4274/jcrpe.galenos.2019.2018.0229
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient's spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient.
引用
收藏
页码：439 / 443
页数：5
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