성염색체 연관 저인산혈증성 구루병 환자의 증례 보고 = X-LINKED HYPOPHOSPHATEMIC RICKETS : CASE REPORT

국문 초록 (Abstract)

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 D 저항성 구루병이라고도 불린다. 본 증례는 서울대학교병원 소아과에서 XLH로 진단받은 6세 6개월의 여아로, 상악 좌측 중절치의 매복을 주소로 소아치과에 의뢰된 환자이다. 환아는 XLH 환자에서 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 맹출지연, 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.

다국어 초록 (Multilingual 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 SNUH. 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.

참고문헌 (Reference)

1 최돈옥, "실험적구루병에서 백서 치아조직 변화에 관한 현미경학적 연구" 7 : 75-83, 1980

2 대한소아치과학회, "소아∙청소년 치과학 4판" 신흥인터내셔날 4-5, 2007

3 문명상, "구루병성 내반슬 변형" 17 : 429-437, 1982

4 최용, "가족성 저인산혈증" 12 : 176-179, 1993

5 Batra P, "X-linked hypophosphatemia: dental and histologic findings" 72 : 69-72, 2006

6 Burnett CH, "Vitamin Dresistant rickets: analysis of 24 pedigrees with hereditary and sporadic cases" 36 : 222-232, 1964

7 Malloy PJ, "The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxy vitamin D-resistant rickets" 20 : 156-188, 1999

8 Seow WK, "The spectrum of dental manifestations in vitamin D-resistant rickets: implications for management" 83 : 245-250, 1986

9 Seow WK, "The effect of medical therapy on dentin formation in vitamin D-resistant rickets" 13 : 97-102, 1991

10 Tulloch EN, "The association of dental abscesses with vitamin D resistant rickets" 5 : 136-138, 1983

11 Stratakis CA, "Recurring oral giant cell lesion in a child with Xlinked hypophosphatemic rickets: clinical manifestation of occult parathyroidism?" 127 : 444-446, 1995

12 Breen GH, "Prophylactic dental treatment for a patient with vitamin D-resistant rickets: report of case" 53 : 38-43, 1986

13 McWhorter AG, "Prevalence of dental abscess in a population of children with vitamin Dresistant rickets" 13 : 91-96, 1991

14 Hillmann G, "Pathohistology of undecalcified primary teeth in vitamin D-resistant rickets: review and report of two cases" 82 : 218-224, 1996

15 Larmas M, "Oral manifestations of familial hypophosphatemic rickets after phosphate supplement therapy: a review of the literature and report of case" 58 : 328-334, 1991

16 Su JM, "Oral findings of hypophosphatemic vitamin D-resistant rickets: report of two cases" 120 : 1468-1470, 2007

17 LinksSchwartz S, "Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases" 66 : 310-314, 1988

18 Carpenter TO, "New perspectives on the biology and treatment of X-linked hypophosphatemic rickets" 44 : 443-466, 1997

19 Seow WK, "Micromorphologic features of dentin in vitamin D-resistant rickets: correlation with clinical grading of severity" 11 : 203-208, 1989

20 Rakocz M, "Management of the primary dentition in vitamin D-resistant rickets" 54 : 166-171, 1982

21 양규호, "Hypophosphatemia rickets환아의 증례보고" 대한소아치과학회 32 (32): 152-157, 2005

22 Witkop CJ Jr, "Hereditary defects of dentin" 19 : 25-45, 1975

23 Murayama T, "Familial hypophosphatemic vitamin D-resistant rickets: dental findings and histologic study of teeth" 90 : 310-316, 2000

24 Shroff DV, "Evaluation of aggressive pulp therapy in a population of vitamin D-resistant rickets patients: a follow-up of 4 cases" 24 : 347-349, 2002

25 Goodman JR, "Ental problems associated with hypophosphataemic vitamin D resistant rickets" 8 : 19-28, 1998

26 Yamamoto T, "Diagnosis of X-linked hypophosphatemic vitamin D resistant rickets" 39 : 499-502, 1997

27 Ozkan S, "Dental manifestations of familial hypophosphatemic vitamin-D-resistant rickets: report of case" 51 : 448-450, 1984

28 Yasufuku Y, "Dental management of familial hypophosphatemic vitamin D-resistant rickets: report of case" 50 : 300-304, 1983

29 Pereira CM, "Dental alterations associated with X-linked hypophosphatemic rickets" 30 : 241-245, 2004

30 Berndt M, "Clinical course of hypophosphatemic rickets in 23 adults" 45 : 33-41, 1996

31 The HYP Consortium, "A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets" 11 : 130-136, 1995