Author/Editor		Fournet, Jean-Christophe; Junien, Claudine
Title		Neonatal hyperinsulinism: toward a molecular classification?
Type		članek
Source		In: Vizjak A, Ferluga D, Bussolati G, editors. Update in pathology. Proceedings of the 19th European congress of pathology: nephropathology pre-congress meeting advances in nephrology, pulmonary pathology pre-congress meeting; 2003 Sep 6-11; Ljubljana. Ljubljana: Faculty of medicine,
Publication year		2003
Volume		str. 320-3
Language		eng
Abstract		Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms which may even be difficult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to clarify the molecular etiology of this disease and thus the mechanisms responsible for this clinical heterogeneity are becoming clearer. Mutations in 4 different genes have been identified in patients with this clinical syndrome. Most cases are caused by mutations in the genes coding for either of the 2 subunits of the beta-cell KATP channel (ABCC8 and KCNJ11), while others are caused by mutations in the beta-cell enzymes glucokinase (GK) and glutamate dehydrogenase (GDH). However, for as many as 50% of the cases, no genetic etiology has yet been determined. The study of the genetics of this disease has provided important new information regarding beta-cell physiology. Although the clinical ramifications of these findings are still limited, in some situations genetic studies may significantly aid in patient management.
Descriptors		HYPERINSULINISM MUTATION POTASSIUM CHANNELS GLUTAMATE DEHYDROGENASE GLUCOKINASE INFANT, NEWBORN