婴儿持续性高胰岛素血症性低血糖症研究进展

Persistent hyperinsulinemic hypoglycemia of infancy

婴儿持续性高胰岛素血症性低血糖症（PHHI）是婴儿持续性低血糖最常见原因，其发病机制涉及影响胰岛B细胞胰岛素分泌的多个基因突变，表现为2种组织学类型（弥漫型和局灶型病变），是一大类病因各异的遗传性疾病。临床表现为婴儿期低血糖伴胰岛素不适当地过度分泌及低酮体、低脂肪酸血症，可造成严重的低血糖脑损伤及继发糖尿病。二氮嗪作为一线治疗药物可以抑制胰岛素分泌，在部分患者中有效。药物治疗无效可行胰腺次全或局部切除术以减缓脑损伤，术前或术中确定病理类型对决定手术方式和判断预后十分重要。

Persistent hyperinsulinemic hypoglycemia of infancy（PHHI） is the most common cause of persistent hypoglycemia in infancy. PHHI is a genetically heterogeneous disorder with two histological lesions（diffuse and focal lesion） and several gene mutations that moderate insulin release in pancreatic β cells. The manifestation is persistent hypoglycemia in infancy, associated with inappropriate oversecretion of insulin and low plasma levels of ketone bodies and free fatty acids, which results in severe hypoglycemic brain damage and secondary diabetes mellitus. Diazoxide, as the first-line therapy, can inhibit the secretion of insulin and may be effective in partial populations. To reduce the risk of brain damage, a near-total or focal pancreatecto- my is necessary if the patient is non-responsive to conservative therapy, and the preoperative or intraoperative histological examination is essential to decide therapeutic approach and prognosis.