Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.
Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.
复制标题
高胰岛素血糖低血糖的诊断和治疗及其对小儿内分泌学的影响。
DOI：
10.1186/s13633-017-0048-8
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Hussain K
中科院分区：
文献类型：
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作者：
Demirbilek H;Rahman SA;Buyukyilmaz GG;Hussain K
葡萄糖稳态需要代谢事件和激素活动的适当和同步协调，以将血糖浓度保持在3.5-5.5 mmol/L的狭窄范围内。胰岛素是胰岛β细胞分泌的唯一降血糖激素，在葡萄糖稳态中起关键作用。胰腺β细胞的胰岛素释放主要受细胞内ATP生成代谢途径的调节。高胰岛素血症性低血糖（HH）是新生儿和儿童重度和持续性低血糖的最常见原因，是尽管血糖水平较低，但仍发生胰岛素分泌不当，导致重度和持续性低酮性低血糖。12个不同关键基因（ABCC 8、KCNJ 11、GLUD 1、GCK、HADH、SLC 16 A1、UCP 2、HNF 4A、HNF 1A、HK 1、PGM 1和PMM 2）的突变构成了先天性HH的潜在分子机制。由于胰岛素可抑制生酮（大脑的替代能源），因此对HH进行及时诊断和立即管理对于避免儿童不可逆的低血糖性脑损伤至关重要。分子遗传学、成像方法（18F-DOPA PET-CT）、药物治疗和手术方法（腹腔镜和开放性胰腺切除术）的进展改变了HH患者的治疗方法并改善了其结局。这篇最新的综述文章提供了儿童HH领域的诊断、分子遗传学、最新进展和治疗选择的背景。
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5–5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) constitute the underlying molecular mechanisms of congenital HH. Since insulin supressess ketogenesis, the alternative energy source to the brain, a prompt diagnosis and immediate management of HH is essential to avoid irreversible hypoglycaemic brain damage in children. Advances in molecular genetics, imaging methods (18F–DOPA PET-CT), medical therapy and surgical approach (laparoscopic and open pancreatectomy) have changed the management and improved the outcome of patients with HH. This up to date review article provides a background to the diagnosis, molecular genetics, recent advances and therapeutic options in the field of HH in children.