Case Report

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

10.4274/jcrpe.galenos.2019.2018.0229

  • Sol Kang
  • Young Kyung Kang
  • Jun Ah Lee
  • Dong Ho Kim
  • Jung Sub Lim

Received Date: 05.10.2018 Accepted Date: 10.02.2019 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30759959

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone breakage due to defective osteoclast function. Autosomal dominant osteopetrosis type II, 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 gene. The patient spine showed multiple sclerotic changes including sandwich vertebra. However, his father with same mutation showed normal skeleton radiographs.

Keywords: Osteopetrosis, bone density, osteoclast, sclerosis, mutation