International Medical Conference of Congenital Hyperinsulinism

描述（由申请人提供）：先天性高胰岛素血症引起的低血糖症是婴儿和儿童中最常见的低血糖症。如果不及时诊断和适当治疗，受影响的儿童将面临癫痫发作和永久性脑损伤的极大风险。许多患者需要近全胰切除术的手术治疗来控制低血糖。最近的研究发现，在高胰岛素血症婴儿和有密切相关疾病导致先天性糖尿病的新生儿中，在调节β细胞胰岛素分泌途径的几个不同步骤中存在遗传缺陷。这些和其他β细胞功能的临床和基础科学的进展已经导致了诊断和治疗婴儿高胰岛素症和胰岛功能相关疾病的重大改进。本建议寻求对2006年6月15日和16日在费城举行的为期两天的高胰岛素血症和新生儿糖尿病国际研讨会的支持。本次研讨会将召集国际知名专家小组，讨论在过去几年中在婴儿和儿童因高胰岛素血症引起的低血糖的基础科学和临床管理方面取得的进展。研讨会的对象是内分泌学、外科学、病理学、遗传学和放射学的临床研究者和临床医生，以及参与胰岛生物学和生物化学的基础科学家。研讨会的目的是促进基础和临床科学家在高胰岛素血症和胰岛失调相关疾病的诊断和治疗方面的转化研究，并促进提高临床护理标准。本提案所要求的资金将帮助支助10名受训人员和年轻研究人员参加研讨会并介绍他们自己的研究。这种支助将促进对这些年轻研究人员的培训，并促进他们在与儿童胰岛调节紊乱有关的基础和转化研究方面的学术事业发展。高胰岛素血症是一种罕见的疾病，但却是婴儿和儿童中最常见、也是最危险的低血糖症。研讨会的目的是促进基础和临床科学家在高胰岛素血症和胰岛失调相关疾病的诊断和治疗方面的转化研究，并促进提高临床护理标准。

DESCRIPTION (provided by applicant): Hypoglycemia due to congenital hyperinsulinism is the most common form of hypoglycemia in infants and children. Affected children are at extreme risk of seizures and permanent brain damage if not promptly diagnosed and adequately treated. Many require surgical treatment with near-total pancreatectomy to control hypoglycemia. Recent advances have identified genetic defects in several different steps in the pathways regulating beta-cell insulin secretion in infants with hyperinsulinism and in neonates with closely related disorders causing congenital diabetes mellitus. These and other advances in clinical and basic science of beta-cell function have already led to major improvements in the diagnosis and treatment of infants with hyperinsulinism and related disorders of islet function. The present proposal seeks support for a two-day international symposium on hyperinsulinism and neonatal diabetes on June 15 & 16, 2006 in Philadelphia. This symposium will assemble a distinguished panel of international experts to discuss the advances that have occurred during the past few years in both the basic science and clinical management of infants and children with hypoglycemia due to hyperinsulinism. The symposium is targeted at clinical investigators and clinicians in endocrinology, surgery, pathology, genetics, and radiology, as well as basic scientists involved with islet biology and biochemistry. The goals of the symposium are to stimulate translational research between basic and clinical scientists in the diagnosis and treatment of hyperinsulinism and related disorders of islet dysregulation and to facilitate improved standards of clinical care. The funds requested in this proposal will help provide support for ten trainees and young investigators to attend the symposium and present their own research. This support will foster the training of these young investigators and their development of academic careers in basic and translational research related to the disorders of islet regulation in children. Hyperinsulinism is a rare condition, but represents the most common, as well as the most dangerous form of hypoglycemia in infants and children. The goals of the symposium are to stimulate translational research between basic and clinical scientists in the diagnosis and treatment of hyperinsulinism and related disorders of islet dysregulation and to facilitate improved standards of clinical care.