Division of Craniofacial Genetics, Department of Pediatric Dentistry and Orthodontics, College of Dental Medicine, Medical University of South Carolina, 173 Ashley Avenue, Charleston, SC 29425, USA.
Am J Med Genet A. 2009 Sep;149A(9):1958-69. doi: 10.1002/ajmg.a.32882.
There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health-care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g., TP63-associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health-care providers, and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts.
有许多方法可以对外胚层发育不良综合征进行分类。临床医生在实践中使用一系列综合征列表来选择潜在的诊断,翻阅如 Freire-Maia 和 Pinheiro 的专著,将患者的发现与列出的综合征进行匹配。医学研究人员可能希望列出具有一个(单一系统)或多个(多元系统)特征的综合征,以便将研究重点集中在一个狭义定义的群体上。特殊利益群体可能希望从他们可以选择的群体中列出一个清单,而保险公司和政府机构可能希望列出一个清单,以确定为谁提供(或拒绝)医疗保健覆盖范围。此外,现在许多分子生物学家正在根据基因突变(例如,TP63 相关综合征)或常见的分子途径来推广分类系统。挑战将是在分类的全面性与可用性和可访问性之间取得平衡,以便真正满足研究人员、医疗保健提供者的利益,最终满足受外胚层发育不良直接影响的个人和家庭的需求。人们也认识到,新的分类方法是一个持续的过程,需要定期审查或更新。无论制定什么样的方案,对于其他因利益相关方众多和诊断敏锐度提高而使分类变得复杂的疾病群体来说,都将具有深远的应用意义。无论对于资金的公平分配、诊断和治疗的正确性,还是研究工作的重点,利益相关方之间的共识都是优化不同群体之间沟通的必要条件。