Flanagan Sarah E, Kapoor Ritika R, Hussain Khalid
Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, United Kingdom.
Semin Pediatr Surg. 2011 Feb;20(1):13-7. doi: 10.1053/j.sempedsurg.2010.10.004.
A genetic diagnosis is now possible for approximately 45%-55% of patients with hyperinsulinemic hypoglycemia. Understanding the genetic etiology of the disease in these patients is clinically important because a genetic diagnosis will provide information on prognosis, recurrence risk, and importantly may also guide clinical management. The aim of this review is to provide an outline of the 7 different molecular mechanisms underlying this heterogeneous disease and to demonstrate that the clinical phenotype can act as a useful guide when prioritizing the order of genetic testing.
目前，约45%-55%的高胰岛素血症性低血糖患者能够进行基因诊断。了解这些患者疾病的遗传病因在临床上具有重要意义，因为基因诊断将提供有关预后、复发风险的信息，重要的是还可能指导临床管理。本综述的目的是概述这种异质性疾病背后的7种不同分子机制，并证明临床表型在确定基因检测顺序时可作为有用的指导。
