Spranger J
Children's Hospital, University of Mainz, Germany.
J Inherit Metab Dis. 2001 Apr;24(2):117-26. doi: 10.1023/a:1010354614926.
Unravelling of diseases is achieved in steps by sequentially describing their phenotype, natural course, aetiology and pathogenesis. Through succinct clinical observation, conglomerates of heterogeneous connective-tissue disorders, such as various forms of disproportionate dwarfism, have been split into well-defined entities. They have often been confirmed by biochemical and molecular analysis. On the other hand, seemingly disparate disorders have been shown to be pathogenetically related and to be variable expressions of common defects. Examples are the mucopolysaccharidoses and type II collagenopathies. Disease recognition through splitting and lumping has improved prevention and prognostication. It is the basic requirement for future therapeutic attempts on a pathogenetic or molecular level.
通过依次描述疾病的表型、自然病程、病因和发病机制，逐步揭示疾病。通过简洁的临床观察，诸如各种形式的身材比例失调性侏儒症等异质性结缔组织疾病的集合已被细分为明确的实体。它们常常通过生化和分子分析得到证实。另一方面，看似不同的疾病已被证明在发病机制上相关，是常见缺陷的不同表现形式。例如黏多糖贮积症和II型胶原病。通过细分和归并来识别疾病，改善了预防和预后。这是未来在发病机制或分子水平上进行治疗尝试的基本要求。
