Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
Acta Paediatr. 2001 Aug;90(8):856-9.
Analysis of a German database comprising a total of 54 patients with neonatal manifestations of persistent hyperinsulinism revealed 5 patients in whom hyperinsulinism was associated with additional clinical symptoms, suggesting an underlying syndromal disorder. Three of the patients presented with a similar yet unknown clinical entity characterized by severe psychomotor retardation, chronic pulmonary disease, hypothyroidism and congenital heart defects. A fourth patient was affected by severe congenital central hypoventilation syndrome. The fifth patient presented with Beckwith-Wiedemann syndrome, with unusually severe and persistent hyperinsulinism requiring subtotal pancreatectomy.
Our results indicate that, in addition to the well-known biochemical pathways, more complex pathophysiological mechanisms can result in persistent hyperinsulinism that presents clinically with a disease involving multiple organs.
对一个包含54例持续性高胰岛素血症新生儿表现患者的德国数据库进行分析，发现5例患者的高胰岛素血症与其他临床症状相关，提示存在潜在的综合征性疾病。其中3例患者表现出一种相似但未知的临床病症，其特征为严重的精神运动发育迟缓、慢性肺部疾病、甲状腺功能减退和先天性心脏缺陷。第4例患者患有严重的先天性中枢性低通气综合征。第5例患者表现为贝克威思-维德曼综合征，伴有异常严重且持续的高胰岛素血症，需要进行胰腺次全切除术。
我们的结果表明，除了众所周知的生化途径外，更复杂的病理生理机制可导致持续性高胰岛素血症，临床上表现为涉及多个器官的疾病。
