Marquard Jan, Palladino Andrew A, Stanley Charles A, Mayatepek Ertan, Meissner Thomas
Department of General Pediatrics, University Children's Hospital Düsseldorf, Germany.
Semin Pediatr Surg. 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006.
Rare forms of congenital hyperinsulinism (CHI) are caused by mutations in GLUD1 (encoding glutamate dehydrogenase), GCK (encoding glucokinase), HADH (encoding for L-3-hydroxyacyl-CoA dehydrogenase), SLC16A1 (encoding the monocarboxylat transporter 1), HNF4A (encoding hepatocyte nuclear factor 4α) or UCP2 (encoding mitochondrial uncoupling protein 2). The clinical presentation is very heterogeneous in regards to age of onset, severity, and manner of symptoms, as well as the response to medical treatment. Special individual characteristics have to be accounted in diagnosis and treatment. Diazoxide is the first-line drug for the rare forms of CHI for long-term treatment but is not entirely effective in some of these rarer defects (GCK, MCT1). The use of diazoxide is often limited by side effects and the use of octreotide as second-line drug has to be considered. A near-total pancreatectomy is only reserved for patients with diffuse disease and resistance to medical treatment as a last resort. Patients with CHI should be managed by centers with a highly experienced team in diagnostic work-up and treatment of this disease.
罕见型先天性高胰岛素血症（CHI）由GLUD1（编码谷氨酸脱氢酶）、GCK（编码葡萄糖激酶）、HADH（编码L-3-羟酰基辅酶A脱氢酶）、SLC16A1（编码单羧酸转运蛋白1）、HNF4A（编码肝细胞核因子4α）或UCP2（编码线粒体解偶联蛋白2）的突变引起。临床表现因发病年龄、严重程度、症状表现方式以及对药物治疗的反应而异。在诊断和治疗中必须考虑特殊的个体特征。二氮嗪是罕见型CHI长期治疗的一线药物，但对某些罕见缺陷（GCK、MCT1）并不完全有效。二氮嗪的使用常受副作用限制，必须考虑使用奥曲肽作为二线药物。近乎全胰腺切除术仅作为最后手段用于弥漫性疾病且对药物治疗耐药的患者。CHI患者应由在该疾病诊断检查和治疗方面经验丰富的团队所在的中心进行管理。
