難治性下顎骨骨髄炎を呈したｐｙｃｎｏｄｙｓｏｓｔｏｓｉｓの治療経過とカテプシンＫ遺伝子の変異解析

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  • Treatment course and mutation analysis of the cathepsin K gene in a case of pycnodysostosis with persistent osteomyelitis of the mandible

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Pycnodysostosis is an uncommon, autosomal recessive skeletal dysplasia characterized by osteosclerosis, bone fragility, osteomyelitis of the mandible, short stature, and actroosteolysis. Recently, we encountered a patient with pycnodysostosis associated with persistent osteomyelitis of the mandible. We report the treatment and mutation analysis of this patient. A 57-year-old man visited our clinic because of pus discharge from the mandibular skin. He had a history of three tibial fractures and had been given a diagnosis of pycnodysostosis at the department of orthopedic surgery. Resolution, sequesterectomy, and excision of the external fistula were performed for a diagnosis of osteomyelitis of the mandible with an external fistula. Subsequently, recrudescence occurred three times, but the patient responded to treatment with azithromycin (AZM). Mutations in the gene encoding cathepsin K, a cysteine protease localized exclusively in osteoclasts, have been recently demonstrated to be responsible for pycnodysostosis. In this study, we performed rapid mutation analysis by amplifying cathepsin K open reading frame (ORF) by reverse transcriptase-polymerase chain reaction (RT PCR), using highly sensitive DNA polymerase and total RNA derived from hematopoietic cells. We found that mutation of cathepsin K gene products converted leucine from proline at the position of the 9th amino acid (codon 9leu-pro; Pro; L9P) These results indicated that persistent osteomyelitis of the mandible in this patient resulted in a major symptom characterized by pycnodysostosis. Moreover, our experimental approach is rapid and sensitive and may be useful for the mutation analysis of diverse diseases.

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