常染色体显性遗传性牙龈纤维瘤病的临床与遗传学特点分析.docVIP

常染色体显性遗传性牙龈纤维瘤病的临床和遗传学特点分析 作者：阎寒松　黄长波　叶晓茜　边专　范华俐 【关键词】 遗传性牙龈纤维瘤病 　　［摘要］ 目的：探讨遗传性牙龈纤维瘤病（HGF）的临床表型和遗传学特点。方法：先证者法收集5个HGF家系并进行问卷和口腔检查，观察不同家系及同一家系不同个体的临床表型和发病特点，分析可能的遗传方式，绘制系谱图。结果：所有家系符合常染色体显性非综合征型HGF特征，发病年龄在牙齿萌出期，患者均有典型的牙龈增生，但不同个体其增生范围和严重程度有明显差异。龈切术可极大地恢复口腔功能和颜面外形，但部分病例在术后有复发倾向。结论：收集的5个家系均为非综合征型常染色体显性遗传HGF，且疾病外显率高，表现度变异大。 　　［关键词］ 遗传性牙龈纤维瘤病 常染色体显性 外显率 表现度 　　Clinical and Genetic Features of Chinese Kindreds with Autosomal Dominant Hereditary Gingival Fibromatosis. 　 　　YAN Han-song, HUANG Chang-bo, YE Xiao-qian , et al. 　　Department of Oral Maxillofacial Surgery, Hospital of Stomatology, Xiangfan City,,Xiangfan 441003 　　［Abstract］Objective: To investigate the clinical and genetic features of autosomal dominant hereditary gingival fibromatosis in Chinese kindreds. Methods: Several pedigrees were collected through the identified probands. Questionnaires and careful oral examinations were taken by independent dentists with the extended interview of family members. Clinical manifestations between and within each family were recorded. Possible inheritance modes were analysed. Results: Of the five pedigrees investigated, an autosomal dominant inheritance mode was suggested. The onset age was at the eruption stage. All patients had typical sympotoms but were phenotypically distinguishable. Conventional gingivectomy was required but reccurense was also common in some cases. Conclusion: Hereditary gingival fibromatosis in our study is dominantly inherited and presents mainly as non-syndromic form, with high penetrance and variable expressivity. 　　［Key words］ Hereditary gingival fibromatosis Autosomal dominant Penetrance Expressitity 遗传性牙龈纤维瘤病（herediatry gingival fibromatosis, HGF）是一种罕见的以牙龈组织缓慢、渐进性增生为主要特征的良性病变。发病率国外为1/750,000［1］，国内尚无确切统计。我们采用先证者法在湖北、河南两地共收集到5个HGF家系，通过绘制完整的系图谱，明确可能的遗传方式，并对各家系患者的牙龈增生、术后复发情况进行深入调查，初步探讨中国HGF家系的临床和遗传学特点，为HGF的诊断和鉴别诊断、临床治疗提供依据。 　　1 材料与方法 　　1.1 HGF诊断标准 受累个体的诊断根据Hart等建立的标准［2］：1)牙龈增生的范围达