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법랑질 형성부전증: 고찰

Amelogenesis imperfecta: a review

김정욱|박수경
대한구강해부학회 (The Korean Academy Of Oral Anatomy)|2021.12|대한구강해부학회지 (The Korean Journal of Oral Anatomy)|제42권 제1호|pp. 61-70|DOI 10.35607/kjoa.42.1.202112.006

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참고문헌

키워드

유전자GeneEnamelHypoplasticHypocalcified법랑질법랑질 형성부전증Amelogenesis imperfecta저형성저석회화저성숙저광화HypomaturedHypomineralized

초록

인체에서 가장 단단하게 석회화된 조직인 치아 법랑질은 기능적으로도 심미적으로도 매우 중요한 기능을 수행하는 중요한 조직이다. 치아 법랑질을 형성하는 과정은 매우 치밀하게 조절되는 일련의 상피-간엽상호작용을 통해서 이루어지는 것이 알려져 있는데, 법랑질 기질의 분비를 시작으로 법랑질의 두께 성장과석회화, 그리고 성숙과정을 거치게 되는데, 이러한 일련의 과정에서 유전적 요인에 의하여 발생한 결함을 법랑질 형성부전증이라고 지칭한다. 임상양상과 유전적 원인이 다양하지만, 크게 치질 자체의 특성에 따라 저형성형, 저석회화형, 저성숙형의 3종류로 분류하거나, 저석회화와 저성숙을 구분하기 어려운 경우에는 저형성형과 저광화형의 2종류로 구분하기도 한다. 분자유전학적 발전으로 많은 신규 유전자가 법랑질 형성부전증에 관여함이 알려져 있어, 본 연구에서는 법랑질 형성부전증의 원인 유전자들과 그 표현형에 대해 기술하고자 하였다.

Abstract

Tooth enamel is the hardest mineralized tissue in the human body and is a crucial tissue for function and esthetics. It is known that a series of ectodermal-mesenchymal interactions is involved in the enamel forming process (amelogenesis) under timely control and tight surveillance. Hereditary enamel defect, amelogenesis imperfecta (AI), is caused by an error that occurred at any stage of amelogenesis: the secretion of the enamel matrix, the calcification, and the maturation stages. AI is heterogeneous in clinical phenotype and genetic etiology. Affected enamel can be classified into three types according to its characteristics (hypoplastic, hypocalcified, and hypomatured) or two types (hypoplastic and hypomineralized) if it is difficult to distinguish between hypocalcified and hypomatured. Novel genes involved in the pathogenesis of AI have been identified by the improved molecular genetic analysis method. In this report, genetic etiologies of AI and its related phenotypes are described for understanding the normal and pathologic process of amelogenesis.

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법랑질 형성부전증 환아의 치험례김영진, 김태완, 김현정, 남순현, 박희숙대한소아치과학회 · 대한소아치과학회지2008 · 제35권 제3호법랑질 형성부전증의 분자유전학적 고찰김정욱대한소아치과학회 · 대한소아치과학회지2008 · 제35권 제1호Fam83h 발현 억제에 의한 조법랑세포 Amelogenin 발현 변화김정욱, 이경은, 이숙경대한소아치과학회 · 대한소아치과학회지2010 · 제37권 제4호혼합치열기에 있는 법랑질형성부전증 환아의 이행적 치료김광철, 박재홍, 최성철, 최영철, 황지영대한소아치과학회 · 대한소아치과학회지2009 · 제36권 제4호상아질 형성부전증의 분자병리학적 고찰김정욱대한소아치과학회 · 대한소아치과학회지2006 · 제33권 제4호국민건강보험공단 자료를 이용한 법랑질 형성부전증과 상아질 형성부전증의 유병률과 치과치료의 현황김나운, 김재곤, 양연미, 이대우, 임형빈대한소아치과학회 · 대한소아치과학회지2021 · 제48권 제4호

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