背景:釉质肾综合征是一种通过常染色体隐性模式传播的罕见遗传疾病。它的特点是发育不良的釉质发育不全,牙齿萌出延迟,牙龈纤维瘤病,和肾钙质沉着症。这项研究的目的是描述临床,放射学,和组织学上牙釉质肾综合征的主要特征,并指出牙医在早期诊断这种遗传性疾病中的作用。
方法:我们的牙釉质肾综合征病例最初通过临床描述,射线照相,和家谱数据,然后辅以肾脏的超声检查和牙龈的显微镜观察。
结果:研究表明存在牙釉质不全症(AI),几颗牙齿撞击,牙龈增生,双侧肾钙化病,和纸浆中的多个钙化,牙龈,牙囊,还有肾脏.
结论:对患者进行全面口腔康复治疗,并转诊至肾病科进行全面体检。牙医在诊断遗传疾病和转介患者接受医疗综合护理方面发挥着关键作用。
BACKGROUND: Enamel renal syndrome is a rare genetic disorder transmitted through an autosomal recessive mode. It is featured by a hypoplastic amelogenesis imperfecta, delayed tooth eruption, gingival fibromatosis, and nephrocalcinosis. The aim of this study was to describe clinically, radiologically, and histologically the main features of enamel renal syndrome and to point out the role of dentists in early diagnosing this genetic disease.
METHODS: Our
case of enamel renal syndrome was initially described by clinical, radiographic, and genealogic data, then complemented by ultrasound examination of the kidneys and microscopic observation of gingivae.
RESULTS: The study showed the presence of amelogenesis imperfecta (AI), several teeth impaction, gingival hyperplasia, bilateral nephrocalcinosis, and multiple calcifications in pulp, gingiva, dental follicle, and kidneys.
CONCLUSIONS: The patient was followed for a full mouth rehabilitation and also referred to a nephrology for global medical checkup. The dentist plays a key role in diagnosing genetic diseases and in referring patients for medical comprehensive care.