Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia

임상적으로 진단된 다발성 골단이형성증 1례

  • Kim, Sun-Ja (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Huh, Rimm (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kwun, Younghee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Lee, Jieun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Shim, Jongsup (Department of Orthopedics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Ok-Hwa (Department of Radiology, Ajou University Hospital) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 김선자 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 조성윤 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 김진섭 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 허림 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 권영희 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 이지은 (성균관대학교 의과대학 삼성서울병원 소아청소년과) ;
  • 심종섭 (성균관대학교 의과대학 삼성서울병원 정형외과) ;
  • 김옥화 (아주대학교 의과대학병원 영상의학과) ;
  • 진동규 (성균관대학교 의과대학 삼성서울병원 소아청소년과)
  • Published : 2015.04.25
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Abstract

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

다발성 골단이형성증은 비교적 흔한 골이형성증으로 소아기에 관절통과 관절 강직, 뒤뚱거리면 걸어가는 보행 및 일부에서 경한 저신장을 특징으로 하며 영상의학적 검사에서는 여러 관절에서 골단의 불규칙한 소견과 골화 지연을 보인다. 본 증례 환자는 임상적, 영상의학적으로 다발성 골단이형성증을 진단 할 수 있었으며 환자의 넓적다리 관절 영상 검사는 MATN3 유전자 변이를, 무릎 관절 영상 검사는 COMP 유전자 변이를 시사하였기에 MATN3과 COMP 유전자 변이에 대해 시퀀싱(sequencing)을 하였으나, 변이는 발견되지 않았다. 이후 엑솜시퀀싱(exomesequencing)을 시행하였으나, 기존에 다발성 골단이형성증과 관련이 있는 것으로 알려진 유전자에 대한 변이가 발견되지 않았다. 본 증례와 같이 임상적, 영상의학적으로 다발성 골단이형성증으로 진단가능 하였으나 분자유전학적으로 기존에 알려진 변이 유전자가 발견되지 않은 환자들을 위해 추가적인 연구가 필요할 것으로 보인다.

Keywords

References

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