年轻糖尿病的多面性--基因组医学能否提高诊断和管理的精确性?

Juliana CN. Chan, Chow Elaine, A. Kong, Elaine Cheung, Tony O, Cadmon K. P. Lim, B. Fan, Sandra Tsoi, Yingnan Fan, Mai Shi, Risa Ozaki, Ronald C W Ma, A. Luk
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摘要

年轻发病的 2 型糖尿病(YOD)是指在 40 岁之前诊断出糖尿病的患者,其临床病程较长,死亡率较高,部分原因是病程较长以及缺乏指导诊断和管理的证据。自身免疫性 1 型糖尿病、成熟期发病的青年糖尿病(MODY)和成人潜伏自身免疫性糖尿病(LADA)是青年糖尿病的亚型,但这些亚型并不能完全解释其复杂的临床病程。同样,携带相同罕见基因变异的单基因糖尿病家族成员也会有不同的表现和结局。祖先的异质性、生态过渡、基因组结构的种族间差异,以及生活环境、生活方式、就医途径、诊断和治疗的及时性等方面的差异,都会影响诊断年龄和接触这些心脏代谢-肾脏风险因素的机会。尽管有关糖尿病遗传关联的文献很多,但罕见变异的家族共聚及其与 YOD 的相关性仍不确定。数十年的临床观察和正在进行的一项随机对照试验的经验教训促使我们提出了这一观点,该试验利用生物遗传标记对 YOD 患者进行分类,以改善预后。除了强调需要利用基于家庭的研究来提高诊断的准确性外,我们还讨论了糖尿病酮症酸中毒的非典型病因以及 YOD 患者的生命历程和心理社会行为因素的重要性。除了详细的临床评估外,我们还建议使用血浆 C 肽、平衡状态评估模型(HOMA)指数、自身抗体和多基因风险评分来对 YOD 进行风险分层、糖尿病亚型分类和个性化治疗。为了实现这些目标,我们主张改变实践环境和团队结构,使医生能够利用从患者及其家庭成员那里了解到的信息,实施精准医疗,改善这些高危人群的前景。
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Multifaceted nature of young-onset diabetes - can genomic medicine improve the precision of diagnosis and management?
Young-onset type 2 diabetes (YOD), defined as diabetes diagnosis before age 40, has an aggressive clinical course with premature mortality, in part due to long disease duration and lack of evidence to guide diagnosis and management. Autoimmune type 1 diabetes, maturity-onset diabetes of the young (MODY), and latent autoimmune diabetes in adults (LADA) are subtypes of diabetes in young people, which, however, cannot fully explain their complex clinical course. Similarly, family members carrying the same rare genetic variant of monogenic diabetes can have different presentations and outcomes. Ancestral heterogeneity, ecological transition, inter-ethnic differences in genomic architecture, and variations in living environment, lifestyles, access to care, and timeliness of diagnosis and treatment can influence the age of diagnosis and exposure to these cardiometabolic-renal risk factors. Despite the wealth of literature on genetic associations with diabetes, the familial cosegregation of rare variants and their relevance to YOD remains uncertain. This perspective was motivated by decades of clinical observations and learnings from an ongoing randomized controlled trial that uses biogenetic markers to classify patients with YOD for improving outcomes. Apart from highlighting the need to use family-based studies to improve the precision of diagnosis, we discussed atypical causes for diabetic ketoacidosis and the importance of lifecourse and psychosocial-behavioral factors in patients with YOD. Apart from detailed clinical evaluation, we propose using plasma C peptide, homeostasis model of assessment (HOMA) indexes, autoantibodies, and polygenic risk scores to stratify risk, classify diabetes subtypes, and personalize treatment in YOD. To achieve these goals, we advocate changing the practice environment and team structure to enable physicians to use the insights they learn from patients and their family members to implement precision medicine and improve the outlook of these high-risk individuals.
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