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科恩综合征与新型VPS13B变体呈现为早期发病的糖尿病:一个病例报告

Kunlin Zhang¹, Yuling Wang¹, Shihong Chen²

¹Department of Endocrinology and Metabolism, The Second Qilu Hospital of Shandong University, 247 Beiyuan Street, Jinan, 250033, China.

Acta diabetologica

|January 27, 2026

概括

科恩综合征是一种罕见的遗传性疾病,可以出现早期发病的糖尿病和酸性脂肪酸症. 基因检测对于诊断这种情况至关重要,即使有非典型的代谢症状.

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
罕见疾病罕见疾病

背景情况:

科恩综合征是一种罕见的自体相衰退性疾病,与VPS13B基因变异有关.
它通常涉及发育迟缓,明显的面部特征,中性质减退,肥胖和视力问题.
越来越多地注意到胰岛素抵抗和糖尿病等代谢问题,尽管早期发病的糖尿病与酸性脂肪酸症很少见.

研究的目的:

报告一个患有科恩综合征的患者患有早期出现的胰岛素耐药性糖尿病病例,并患有复发性糖尿病酸性糖尿病.
扩大对科恩综合征代谢和突变谱的理解.
强调基因检测对非典型糖尿病综合征性原因的重要性.

主要方法:

一个28岁的中国妇女的临床病例报告.
详细的病史,包括症状,体检和糖尿病特征.
整体外基因组测序以识别遗传变异.

主要成果:

这位患者出现智力障碍,特征性面部形,肥胖,中性质减退和视力障碍.
她被诊断出患有早期发病的胰岛素耐药糖尿病,并患有复发性糖尿病酸性糖尿病和病.
整个外因组测序揭示了两种新型化合物异构VPS13B变体,证实了科恩综合征.

结论:

这一案例突出显示了一种罕见的科恩综合征呈现,伴有严重的代谢并发症.
它扩大了已知的科恩综合征的临床和遗传变异性.
基因分析对于诊断异常早期糖尿病患者的科恩综合征至关重要,促使及时管理.

关键词:

这就是VPS13B基因.科恩综合征是科恩综合征的一种症状.糖尿病是一种糖尿病.一个新的突变.整体外基因组测序的测序

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