As our understanding of the pathophysiology of diabetes evolves, we increasingly recognize that many patients may have a form of diabetes that does not neatly fit with a diagnosis of either type 1 or type 2 diabetes. The discovery and description of these forms of “atypical diabetes” have led to major contributions to our collective understanding of the basic biology that drives insulin secretion, insulin resistance, and islet autoimmunity. These discoveries now pave the way to a better classification of diabetes based on distinct endotypes. In this review, we highlight the key biological and clinical insights that can be gained from studying known forms of atypical diabetes. Additionally, we provide a framework for identification of patients with atypical diabetes based on their clinical, metabolic, and molecular features. Helpful clinical and genetic resources for evaluating patients suspected of having atypical diabetes are provided. Therefore, appreciating the various endotypes associated with atypical diabetes will enhance diagnostic accuracy and facilitate targeted treatment decisions.

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非典型糖尿病：我们学到了什么以及未来会怎样？

随着我们对糖尿病病理生理学了解的不断深入，我们越来越认识到许多患者可能患有某种与 1 型或 2 型糖尿病的诊断并不完全相符的糖尿病。这些形式的“非典型糖尿病”的发现和描述为我们对驱动胰岛素分泌、胰岛素抵抗和胰岛自身免疫的基础生物学的集体理解做出了重大贡献。这些发现现在为根据不同内型更好地分类糖尿病铺平了道路。在这篇综述中，我们强调了通过研究已知形式的非典型糖尿病可以获得的关键生物学和临床见解。此外，我们还提供了一个根据非典型糖尿病患者的临床、代谢和分子特征来识别患者的框架。提供了有用的临床和遗传资源，用于评估疑似患有非典型糖尿病的患者。因此，了解与非典型糖尿病相关的各种内型将提高诊断准确性并促进有针对性的治疗决策。