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与歌舞伎综合征相关的糖尿病和胰岛素抵抗——病例报告及文献综述

Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review.

作者信息

Thewjitcharoen Yotsapon, Wanothayaroj Ekgaluck, Nakasatien Soontaree, Krittiyawong Sirinate, Khurana Ishant, El-Osta Assam, Himathongkam Thep

机构信息

Diabetes and Thyroid Center Theptarin Hospital Bangkok Thailand.

Epigenetics in Human Health and Disease Laboratory Department of Diabetes Central Clinical School Faculty of Medicine Nursing and Health Sciences Monash University Melbourne Australia.

出版信息

Clin Case Rep. 2022 Apr 15;10(4):e05736. doi: 10.1002/ccr3.5736. eCollection 2022 Apr.

Abstract

Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facies, intellectual disability, and multi-organ anomalies. This case report highlights the importance of clinical recognizable phenotype in patients with diabetes. The development of diabetes should be considered an endocrine complication in KS patients.

摘要

歌舞伎综合征(KS)是一种遗传性疾病,其特征为独特面容、智力障碍和多器官异常。本病例报告强调了糖尿病患者临床可识别表型的重要性。糖尿病的发生应被视为KS患者的一种内分泌并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5240/9010955/d97f3a0dfab9/CCR3-10-e05736-g003.jpg

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