Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. HI represents a heterogeneous group of disorders characterized by dysregulated insulin secretion by the pancreatic beta cells, which in utero, may result in somatic overgrowth. There are at least nine known monogenic forms of HI as well as several syndromic forms. Molecular diagnosis allows for prediction of responsiveness to medical treatment and likelihood of surgically-curable focal hyperinsulinism. Timely genetic mutation analysis has thus become standard of care. However, despite significant advances in our understanding of the molecular basis of this disorder, the number of patients without an identified genetic diagnosis remains high, suggesting that there are likely additional genetic loci that have yet to be discovered.

中文翻译：

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先天性高胰岛素血症疾病：遗传和临床特征。


先天性高胰岛素血症（HI）是婴儿和儿童持续低血糖的最常见原因。延迟诊断和开始适当的治疗会导致神经认知障碍的高风险。 HI 代表一组异质性疾病，其特征是胰腺 β 细胞的胰岛素分泌失调，在子宫内可能导致体细胞过度生长。已知至少有九种单基因型 HI 以及几种综合征型。分子诊断可以预测对药物治疗的反应以及可手术治愈的局灶性高胰岛素血症的可能性。因此，及时的基因突变分析已成为护理标准。然而，尽管我们对这种疾病的分子基础的理解取得了重大进展，但没有确定基因诊断的患者数量仍然很高，这表明可能还有其他遗传位点尚未发现。