RESUMO
Congenital hyperinsulinism (CHI) is a rare and heterogeneous disease with a challenging diagnostic process and a need of individualised treatment of each patient. In severe, neonatal or infant CHI, differentiation between the focal and diffuse form by rapid genetics, 18F-fluoro-L-dihydroxyphenylalanine positron emission tomography/computed tomography and peroperative microscopy of frozen section allows surgeons to resect the focal lesion instead of performing subtotal pancreatectomy. Milder CHI, sometimes difficult to diagnose, is treated conservatively. In spite of all improvements, cerebral complications are still frequently seen.
Assuntos
Hiperinsulinismo Congênito , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/etiologia , Hiperinsulinismo Congênito/genética , Hiperinsulinismo Congênito/patologia , Testes Genéticos , Genótipo , Humanos , Lactente , Recém-Nascido , Mutação , FenótipoRESUMO
Congenital hyperinsulinism (CHI) is a heterogeneous disease with variable onset, non- or hypoketotic hypoglycaemia, onset from birth to adulthood and a persistent, intermittent, or transient course with possible later conversion to non-autoimmune diabetes. Giving insights to beta cell function, CHI mutations are now known in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and UCP2). However, 40-50% of the patients are still genetically unexplained. CHI can be dominantly or recessively inherited or may occur de novo. A number of syndromes can be associated with CHI.
