先天性高胰岛素血症诊治进展

Perspective on diagnosis and treatment of congenital hyperinsulinism

先天性高胰岛素血症（CHI）是多种遗传性疾病引起胰岛β细胞不适当分泌胰岛素导致的一组严重低血糖症，是婴幼儿频发性、持续性低血糖的最常见原因，具有很高的临床及遗传异质性。CHI临床相对罕见，若未能得到积极正确诊治，极易造成永久性脑损伤。依据典型生化特征，CHI典型病例的临床诊断相对容易，但仍有45％-55％致病病因不明确。在治疗方面，目前推荐对所有患儿，二氮嗪均作为一线治疗药物[5～20mg／（kg·d）]，对二氮嗪无效者若为单等位基因、父系隐性遗传ABCC8／KCNJll突变且行18F．多巴正电子发射断层扫描-CT病灶定位于胰腺体尾部者可行手术治疗；其余患儿予奥曲肽、胰高血糖素治疗或尝试其他药物治疗，均无效者选用胰腺次全切除术，术后应定期评估血糖及胰腺外分泌功能。

Congenital hyperinsulinism （CHI） is the most frequent cause of persistent hypoglycemia in infancy, and it is a rare genetic disorder characterized by severe hypoglycemia caused by inappropriate insulin secretion by pan-creatic β-cells. The clinical presentation, histology, genetics and response to medical treatment are of genetic heteroge-neity. Appropriate treatment is critically important as profound and repeated episodes of hypoglycemia often cause severe brain damage. Based on the biochemical profiles, clinical diagnosis is relative easier to be established, however, the ge- netic basis is only found in approximately 45% -55% of patients. In terms of treatment, Diazoxide is recommended as first - line treatment for all patients [ 5 - 20 mg/（ kg · d） ]. In patients unresponsive to Diazoxide,if genetic result con- firms a monoallelic, recessive paternally - inherited mutation in ABCC8 or KCNJll, and 18F - fluorodihydroxypheny- lalanine - positron emission tomography - computed tomography scan indicates the lesion is located in the body or tail of the pancreas, surgical treatment is recommended. And for the other patients, subcutaneous octreotide, intravenous gluea-gon, or oral calcium antagonist should be sequentially attempted in order to minimize the need for near- total/subtotal panereatectomy.