Diabetes mellitus and insulin resistance associated with Kabuki syndrome-A case report and literature review.
Thewjitcharoen YotsaponEkgaluck WanothayarojSoontaree NakasatienSirinate KrittiyawongIshant KhuranaAssam El-OstaThep HimathongkamPublished in: Clinical case reports (2022)
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.
Keyphrases
- case report
- intellectual disability
- insulin resistance
- type diabetes
- end stage renal disease
- autism spectrum disorder
- glycemic control
- ejection fraction
- chronic kidney disease
- cardiovascular disease
- adipose tissue
- prognostic factors
- metabolic syndrome
- high fat diet
- skeletal muscle
- gene expression
- genome wide
- patient reported outcomes
- weight loss
- high fat diet induced