PDF(Pubmed)
Abstract：
Monogenic diabetes, constituting 1%-2% of global diabetes cases, arises from single gene defects with distinctive inheritance patterns. Despite over 50 ass-ociated genetic disorders, accurate diagnoses and management of monogenic diabetes remain inadequate, underscoring insufficient clinician awareness. The disease spectrum encompasses maturity-onset diabetes of the young (MODY), characterized by distinct genetic mutations affecting insulin secretion, and neonatal diabetes mellitus (NDM) - a heterogeneous group of severe hyperglycemic disorders in infants. Mitochondrial diabetes, autoimmune monogenic diabetes, genetic insulin resistance and lipodystrophy syndromes further diversify the monogenic diabetes landscape. A tailored approach based on phenotypic and biochemical factors to identify candidates for genetic screening is recommended for suspected cases of MODY. NDM diagnosis warrants immediate molecular genetic testing for infants under six months. Identifying these genetic defects presents a unique opportunity for precision medicine. Ongoing research aimed to develop cost-effective genetic testing methods and gene-based therapy can facilitate appropriate identification and optimize clinical outcomes. Identification and study of new genes offer a valuable opportunity to gain deeper insights into pancreatic cell biology and the pathogenic mechanisms underlying common forms of diabetes. The clinical review published in the recent issue of World Journal of Diabetes is such an attempt to fill-in our knowledge gap about this enigmatic disease.
摘要：
单基因糖尿病,占全球糖尿病病例的1%-2%，源于具有独特遗传模式的单基因缺陷。尽管有超过50种遗传性疾病，单基因糖尿病的准确诊断和管理仍然不足，强调临床医生意识不足。疾病谱包括年轻人的成熟型糖尿病（MODY），以影响胰岛素分泌的独特基因突变为特征，和新生儿糖尿病（NDM）-一组婴儿严重的高血糖疾病。线粒体糖尿病,自身免疫性单基因糖尿病，遗传性胰岛素抵抗和脂肪营养不良综合征进一步使单基因糖尿病的格局多样化。对于MODY的疑似病例，建议采用基于表型和生化因素的量身定制的方法来鉴定遗传筛查的候选者。NDM诊断需要对6个月以下的婴儿进行立即的分子遗传检测。识别这些遗传缺陷为精准医学提供了独特的机会。正在进行的旨在开发具有成本效益的基因检测方法和基于基因的治疗的研究可以促进适当的识别和优化临床结果。新基因的鉴定和研究为深入了解胰腺细胞生物学和常见糖尿病的致病机制提供了宝贵的机会。发表在最近一期的《世界糖尿病杂志》上的临床评论试图填补我们对这种神秘疾病的知识空白。
