Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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X-LINKED HYPOPHOSPHATEMIC RICKETS : CASE REPORT

성염색체 연관 저인산혈증성 구루병 환자의 증례 보고

  • Lee, Su-Jin (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Young-Jae (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Jang, Ki-Taeg (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Lee, Sang-Hoon (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Chong-Chul (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Hahn, Se-Hyun (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University) ;
  • Kim, Jung-Wook (Department of Pediatric Dentistry, College of Dentistry and Dental Research Institute, Seoul National University)
  • 이수진 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 김영재 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 장기택 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 이상훈 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 김종철 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 한세현 (서울대학교 치과대학 소아치과학교실 및 치학연구소) ;
  • 김정욱 (서울대학교 치과대학 소아치과학교실 및 치학연구소)
  • Published : 2009.05.30
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Abstract

XLH (X-linked hypophosphatemic rickets) is a form of rickets which is resistant to the usual dose of vitamin D and inherited in a X-linked dominant manner. It is also known as vitamin D-resistant rickets or familial hypophosphatemic rickets. Here we report a 6-year-and-6-month-old female patient of XLH who is diagnosed with in SNUB. She was referred from local clinic for impaction of maxillary left permanent incisor and its treatment. She presents bowing deformities of the legs, short stature, enlargement of wrist and ankles and spontaneous dental abscesses of clinically sound teeth delayed eruption, taurodontism, delayed apical closure, enlarged pulp chambers, and absent or poorly defined lamina dura. The purpose of this case is to review the literatures of XLH and report the dental and medical characteristics of this patient.

X-linked hypophosphatemic rickets(이하 XLH로 기술)는 구루병의 일종으로 임상적으로는 비타민 D의 대량 투여로도 개선되지 않고 성염색체 우성 유전되는 유전성 질환이다. 저인산혈증성 구루병, 비타민 D저항성 구루병이라고도 불린다. 본 증례는 서울대학교병원 소아과에서 XLH로 진단받은 6세 6개월의 여아로, 상악 좌측 중절치의 매복을 주소로 소아치과에 의뢰된 환자이다. 환아는 XLH환자에서 전형적으로 보이는 보행 장애, 다리의 휨현상 작은 키, 손목, 무릎, 발목 관절의 종창 등이 관찰되었다. 또 치과적 특징으로 임상적으로 건전한 치아에서 자발적인 치근단 농양과 농루가 발생하였고 치아의 맹출 지연, 우상치 (taurodontism), 근단공의 폐쇄 지연, 확대된 치수강 등을 나타내었기에 이전 문헌 고찰을 통하여 XLH 환아의 특징을 살펴보고 본 환자의 의과적, 치과적 특성 및 매복된 치아의 치료에 대하여 보고하는 바이다.

Keywords

References

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