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

页码：439 / 443

页数：5

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