Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
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DOI：
10.4274/jcrpe.2017.s007
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发表时间：
2017-12-30
影响因子：
1.9
通讯作者：
Hussain K
中科院分区：
文献类型：
--
作者：
Demirbilek H;Hussain K
胰腺β细胞被微调为分泌胰岛素，因此血糖水平维持在一个狭窄的生理范围内(3.5mmo1/L)。高胰岛素血症性低血糖(HH)是在低血糖的情况下胰岛素的不适当分泌，会导致新生儿和儿童持续严重的低血糖。参与调节胰腺β细胞胰岛素分泌的12个关键基因(ABCC8、KCNJ11、GLUD1、GCK、HADH、SLC16A1、UCP2、HNF4a、HNF1a、HK1、PGM1和PMM2)的突变已被描述为导致先天性HH的潜在分子机制。在HH中，由于胰岛素对脂解和酮体生成的抑制作用，在存在低血糖的情况下，酮体的形成受到抑制，从而增加了低血糖脑损伤的风险。因此，及时诊断和及时治疗是避免儿童低血糖脑损伤和长期神经并发症的关键。分子遗传学、成像技术(18F-DOPA正电子发射断层扫描/计算机断层扫描)、内科治疗和外科技术的进步(腹腔镜术和开腹胰腺切除术)改变了HH的治疗方法，改善了患者的预后。本文就不同类型HH的发病背景、临床表现、诊断、分子遗传学及治疗作一综述。
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH. In HH due to the inhibitory effect of insulin on lipolysis and ketogenesis there is suppressed ketone body formation in the presence of hypoglycaemia thus leading to increased risk of hypoglycaemic brain injury. Therefore, a prompt diagnosis and immediate management of HH is essential to avoid hypoglycaemic brain injury and long-term neurological complications in children. Advances in molecular genetics, imaging techniques (18F-DOPA positron emission tomography/computed tomography scanning), medical therapy and surgical advances (laparoscopic and open pancreatectomy) have changed the management and improved the outcome of patients with HH. This review article provides an overview to the background, clinical presentation, diagnosis, molecular genetics and therapy in children with different forms of HH.