Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis

신석회증을 동반한 희귀한 법랑질 형성 부전증 : 증례 보고

  • Choi, Sooji (Department of Pediatric Dentistry, Ajou University Dental Hospital) ;
  • Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) ;
  • Ji, Suk (Department of Periodontology, Ajou University Dental Hospital) ;
  • Song, Seungil (Department of Oral and Maxillofacial Surgery, Ajou University Dental Hospital) ;
  • Shin, Jeongwon (Department of Orthodontics, Ajou University Dental Hospital) ;
  • Kim, Seunghye (Department of Pediatric Dentistry, Ajou University Dental Hospital)
  • 최수지 (아주대학교 치과병원 소아치과) ;
  • 손영배 (아주대학교 병원 의학유전학과) ;
  • 지숙 (아주대학교 치과병원 치주과) ;
  • 송승일 (아주대학교 치과병원 구강악안면외과) ;
  • 신정원 (아주대학교 치과병원 교정과) ;
  • 김승혜 (아주대학교 치과병원 소아치과)
  • Received : 2019.10.15
  • Accepted : 2019.11.21
  • Published : 2020.08.31
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Abstract

Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome (ERS; OMIM #204690). This syndrome is characterized by severe enamel hypoplasia, failed tooth eruption, intra pulpal calcifications, enlarged gingiva, and nephrocalcinosis. Nephrocalcinosis is a condition where calcium salts are deposited in renal tissue, and this may lead to critical kidney complications. This rare syndrome shows pathognomonic oral characteristics that are easily detectable at an early age, which proceeds the onset of renal involvement. Pediatric dentists are the first oral health practitioners whom ERS patients will meet at early age. The role of pediatric dentists is critically important for early diagnosis and referral of patients to both nephrologists for renal assessment and geneticists for identification of causative mutation and diagnosis. Early detection of renal involvement may provide chances to prevent further undesired renal complications.

법랑질 형성부전증은 단독으로 나타나거나 다른 구강내 이상 또는 전신질환과 동반되어 나타난다. 신석회증을 동반한 법랑질 형성 부전증은 Enamel Renal Syndrome (ERS; OMIM #204690)으로 불리며, 법랑질의 심각한 저형성, 다수의 치아 맹출 장애, 치수내 석회화, 치은 증식, 신석회증을 특징으로 한다. 신석회증이란 칼슘 결정이 신장 조직 내에 침착되어 심각한 신장 합병증을 일으키게 되는 질환이다. 이 증후군은 특징적인 구강내 소견을 보이므로 신장 증상이 나타나기 전에 조기에 발견될 수 있으며, 이러한 조기발견으로 추후 심각한 신장 질환 합병증을 예방할 수 있다. 따라서 소아치과 의사는 ERS가 의심된다면 신장 평가를 위해 소아과 의사에게 의뢰하여야 하고, 또한 관련 원인 유전자 탐색을 위해 유전학자에게 의뢰를 하는 역할을 할 수 있다.

Keywords

References

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