Congenital hyperinsulinism: current status and future perspectives

摘要: The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay. improvement was possible by recent developments in understanding molecular pathological basis CHI. Known etiologies include inactivating mutations KATP channel genes (ABCC8 KCNJ11) HNF4A, HNF1A, HADH, UCP2 or activating GLUD1, GCK, SLC16A1. focal form CHI its detection 18F-fluoro-L-DOPA positron emission tomography revolutionized management CHI, many can be cured without postoperative diabetes mellitus. incidence appears higher Asian countries; therefore, establishment systems even more important this population. In addition diazoxide long-term subcutaneous infusion octreotide glucagon, long-acting lanreotide also been used successfully until spontaneous remission. Because these medications, near-total pancreatectomy less often performed for diazoxide-unresponsive diffuse Other promising medications pasireotide, small-molecule correctors such as sulfonylurea carbamazepine, GLP1 receptor antagonists, mammalian target rapamycin inhibitors. Unsolved questions field identification remaining responsible mechanisms leading transient remission This article reviews hypothesis regarding questions.