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 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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著者

    • 内田 大亮 UCHIDA Daisuke
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry
    • 玉谷 哲也 TAMATANI Tetsuya
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry
    • 富塚 佳史 TOMIZUKA Yoshifumi
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry
    • 大江 剛 OHE Go
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry
    • 吉田 秀夫 YOSHIDA Hideo
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry
    • 佐藤 光信 SATO Mitsunobu
    • 徳島大学歯学部口腔外科学第二講座 Second Department of Oral and Maxillofacial Surgery, Tokushima University School of Dentistry

抄録

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 9<SUP>leu-pro</SUP>; 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.

収録刊行物

  • 日本口腔外科学会雑誌  

    日本口腔外科学会雑誌 50(7), 415-421, 2004-07-20 

    Japanese Society of Oral and Maxillofacial Surgeons

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各種コード

  • NII論文ID(NAID)
    10018619571
  • NII書誌ID(NCID)
    AN00189163
  • 本文言語コード
    JPN
  • 資料種別
    ART
  • ISSN
    00215163
  • データ提供元
    CJP書誌  CJP引用  J-STAGE 
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