AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS SYNDROME - CASE-STUDIES OF CLINICAL-FEATURES AND ULTRASTRUCTURE OF TOOTH ENAMEL IN 2 SIBLINGS
AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS SYNDROME - CASE-STUDIES OF CLINICAL-FEATURES AND ULTRASTRUCTURE OF TOOTH ENAMEL IN 2 SIBLINGS
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DOI：
10.1016/s1079-2104(05)80100-3
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发表时间：
1995-05-01
影响因子：
--
通讯作者：
MCCREDIE, DA
中科院分区：
文献类型：
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作者：
HALL, RK;PHAKEY, P;MCCREDIE, DA
本文描述了两个患有鲜为人知的釉质生成不全和肾钙沉着症综合征的兄弟姐妹的牙釉质超微结构和临床特征。肾钙质沉着症通过腹部 X 线检查、静脉肾盂造影、超声检查和计算机断层扫描来诊断。釉质生成不全是通过临床和组织学检查诊断的。受影响的牙釉质发育不全（厚度约为 0.2 毫米）、正双折射、通常为棱柱形、多孔，由松散堆积、随机取向、薄（宽度约为 10 纳米）、带状晶体组成。釉质表面粗糙，有大面积裂纹，并布满卵圆形或球状突起。观察结果表明，在这种情况下，同一颗牙齿存在发育不全、钙化不足或成熟不足的缺陷，表明分泌期和成熟期都可能受到影响。该研究表明间质基质可能存在异常，这可能导致肾脏营养不良性钙化和牙釉质形成异常。它还表明可能涉及两个独立但紧密相连的基因。
This article describes the enamel ultrastructure and clinical features in two siblings with the little known syndrome of Amelogenesis imperfecta and nephrocalcinosis. Nephrocalcinosis was diagnosed by x-ray examination of the abdomen, intravenous pyelography, ultrasonography, and computed tomography scan. Amelogenesis imperfecta was diagnosed from clinical and histologic examinations. The affected enamel was hypoplastic (similar to 0.2 mm thick), positively birefringent, generally aprismatic, porous, and consisted of loosely packed, randomly orientated, thin (similar to 10 nm wide), ribbonlike crystals. The enamel surface was rough, extensively cracked, and covered with ovoid or globular protrusions. Observations showed that in this case hypoplasia, hypocalcification, or hypomaturation defects were present in the same tooth, indicating that both secretory and maturation phases may have been affected. The study suggested the possibility of an abnormality in interstitial matrix, which could lead to dystrophic calcification in the kidney and abnormal tooth enamel formation. It also suggested the possibility of involvement of two separate but closely linked genes.