A case of amelogenesis imperfecta, cleft lip and palate and polycystic kidney disease.
A case of amelogenesis imperfecta, cleft lip and palate and polycystic kidney disease.
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DOI：
10.1111/j.1601-6343.2006.00337.x
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发表时间：
2006-02-01
影响因子：
3.1
通讯作者：
Ohyama, K
中科院分区：
文献类型：
--
作者：
Suda, N;Kitahara, Y;Ohyama, K
目的：釉质生成不全（AI）是一组异质性遗传性疾病，其特征是牙釉质发育异常。 AI 也被视为多器官异常的一部分，例如伴有锥杆营养不良、下丘脑垂体功能不全和肾功能衰竭。目前患有 AI 和肾钙质沉着症的患者表现出与之前肾衰竭病例不同的表型。为了突出这一罕见病例的特征，进行了包括组织学、生化和遗传学检查在内的广泛分析。 患者：本次日本男性患者表现出牙列伴 AI 以及双侧唇裂和腭裂。他拔出的牙齿的磨碎切片显示，这是低成熟型AI，不像以前的肾钙质沉着症病例是发育不全型。他在 15 岁时出现肾钙质沉着症和血尿，但这些症状似乎继发于多囊肾病。他表现出 II 类骨骼模式，具有下颌后缩轮廓和双牙弓后斜切牙。可见多面外观，角角增大。血清碱性磷酸酶、甲状旁腺激素、降钙素、钙、磷酸盐等生化指标均在正常范围。对编码牙釉蛋白和牙釉蛋白的基因（已知这些基因与发育不全型AI有关）进行序列分析，没有发现任何突变。由于同源盒转录因子 Msx2 的小鼠无效突变体表现出类似于 AI 的表型，因此对该基因的人类同源物 MSX2 进行了测序。 T447C 存在错义突变，导致第 129 位的蛋氨酸转化为苏氨酸。
OBJECTIVE: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders characterized by developmental abnormalities of tooth enamel. The AI is also seen as part of multi-organ abnormalities, e.g. with cone-rod dystrophy, hypothalamo-hypophyseal insufficiency and renal failure. The present patient with AI and nephrocalcinosis exhibited a phenotype different from previous cases with renal failure. To highlight the characteristics of this rare case, extensive analysis that included histological, biochemical and genetic examinations was performed.PATIENT: The present Japanese male patient exhibited dentition with AI and bilateral cleft lip and palate. Ground sections of his extracted tooth showed that it was hypomaturation-type AI, unlike previous cases with nephrocalcinosis were hypoplastic-type. He showed nephrocalcinosis and hematuria at 15 years of age but these symptoms appeared to be secondary to polycystic kidney disease. He showed skeletal Class II pattern with a retrognathic profile and retroclined incisors of both arches. A dolicofacial appearance was seen with an enlarged gonial angle. Biochemical makers including serum alkaline phosphatase, parathyroid hormone, calcitonin, calcium, and phosphate, were all in the normal range. Sequence analysis of the genes encoding amelogenin and enamelin, which are known to be responsible for hypoplastic-type AI, did not reveal any mutations. Since mouse null mutant of homeobox transcription factor, Msx2, exhibits a phenotype resembling AI, the human homolog of this gene, MSX2, was sequenced. There was a missense mutation of T447C that resulted in the conversion of methionine to threonine at 129.