Shield Julian P H
University of Bristol and Bristol Royal Hospital for Children, Bristol, UK.
Horm Res. 2007;67(2):77-83. doi: 10.1159/000096354. Epub 2006 Oct 17.
It has become increasingly apparent over the last few years that the seemingly ubiquitous auto-immune aetiology to pre-pubertal diabetes does not apply to those diagnosed under 6 months of age. In this age group, disease appears, in the vast majority of cases, to be conferred by single gene disorders mainly related to pancreatic development. The unravelling of these disorders has resulted in a far greater understanding of pancreatic development and some startling changes in treatment, resulting in improved quality of life and diabetes control. The progress made in our scientific and clinical understanding of these extremely rare diseases is a perfect example of how studying seemingly rare illnesses can improve our overall knowledge of much more common conditions.
在过去几年中，越来越明显的是，青春期前糖尿病看似普遍存在的自身免疫病因并不适用于6个月以下被诊断出的患者。在这个年龄组中，绝大多数情况下，疾病是由主要与胰腺发育相关的单基因紊乱引起的。对这些紊乱的揭示使我们对胰腺发育有了更深入的了解，并在治疗上带来了一些惊人的变化，从而改善了生活质量和糖尿病控制。我们在科学和临床方面对这些极其罕见疾病的理解所取得的进展，是一个完美的例子，说明研究看似罕见的疾病如何能提高我们对更常见疾病的整体认识。
