Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8.
María Clemente LeónPatricia CoboMaría AntolínAriadna Campos-MartorellDiego Yeste FernándezRosangela TomasiniMaría CaimaríMiriam MasasElena García-ArumíMónica Fernández-CancioNoelia Baz-RedónNúria Camats-TarruellaPublished in: The Journal of clinical endocrinology and metabolism (2023)
The high remission rate observed in our cohort makes conservative medical treatment a reliable strategy for the management of patients with congenital hyperinsulinism due to ABCC8 variants. In addition, a periodic follow-up of glucose metabolism after remission is recommended as a significant proportion of patients evolved to impaired glucose tolerance or diabetes (biphasic phenotype).
Keyphrases
- end stage renal disease
- type diabetes
- copy number
- newly diagnosed
- ejection fraction
- cardiovascular disease
- chronic kidney disease
- healthcare
- disease activity
- prognostic factors
- rheumatoid arthritis
- adipose tissue
- gene expression
- insulin resistance
- metabolic syndrome
- systemic lupus erythematosus
- dna methylation
- genome wide