先天性孤立型高胰岛素血症

定义 英文原文（暂无中文）

A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.

别名

婴儿持续高胰岛素血性低血糖

基本事实

遗传方式

常染色体显性、常染色体隐性

发病年龄

儿童期、婴儿期、新生儿期

患病率

1-9 / 100 000（Czech Republic）

相关基因 8来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

近两年的全球研究 16L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 16 篇。本病的检索词较宽泛，命中数可能偏高，请以标题为准。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-07
  Two threats in early life: congenital hyperinsulinemic hypoglycemia and thrombosis
  Therapeutic advances in endocrinology and metabolism · DOI · Europe PMC
• 2026-06
  Near-Total Pancreatectomy for Congenital Hyperinsulinemic Hypoglycemia: A Single-Center Experience From a Low-Resource Setting in Sudan
  Cureus · DOI · Europe PMC
• 2026-04
  A 13-Year-Old Girl with Congenital Hyperinsulinemic Hypoglycemia Due to an <i>ABCC8</i> Mutation and Recent Onset of Diabetes Mellitus: A Case Report and Literature Review
  Journal of clinical research in pediatric endocrinology · DOI · Europe PMC
• 2026-04开放获取
  Anesthesia considerations in pediatric pancreatectomy for congenital hyperinsulinemic hypoglycemia: A retrospective case series
  Saudi journal of anaesthesia · DOI · Europe PMC
• 2026-02综述开放获取
  Genetic background of infantile hypophosphatemia: a narrative review
  Translational pediatrics · DOI · Europe PMC
• 2026-01病例报告开放获取
  Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2025-11综述开放获取
  Expert consensus on the off-label use of drugs for pediatric rare diseases in China (2025 edition)
  Translational pediatrics · DOI · Europe PMC
• 2025-08病例报告开放获取
  Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia
  International journal of molecular sciences · DOI · Europe PMC
• 2025-07开放获取
  Trisomy 13 as a risk factor for pulmonary hypertension induced by diazoxide
  Annals of pediatric cardiology · DOI · Europe PMC
• 2025-06开放获取
  Performance of ChatGPT-4o and Four Open-Source Large Language Models in Generating Diagnoses Based on China's Rare Disease Catalog: Comparative Study
  Journal of medical Internet research · 被引 13 · DOI · Europe PMC
• 2025-06病例报告开放获取
  Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region
  Clinical epigenetics · DOI · Europe PMC
• 2025-04病例报告开放获取
  A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report
  Journal of medical case reports · DOI · Europe PMC
• 2025-01病例报告开放获取
  Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking
  BMC medical genomics · 被引 1 · DOI · Europe PMC
• 2024-11综述开放获取
  Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations
  Diabetes, metabolic syndrome and obesity : targets and therapy · 被引 3 · DOI · Europe PMC
• 2024-11开放获取
  A Comprehensive Target Panel Allows to Extend the Genetic Spectrum of Neuroendocrine Tumors
  Neuroendocrinology · 被引 1 · DOI · Europe PMC
• 2024-09开放获取
  A Novel De Novo Gain-of-Function <i>CACNA1D</i> Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia
  Neurology. Genetics · 被引 6 · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 3L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

当前没有检索到登记为可入组的试验。

中国境外的在招试验 4L2

共 4 项。

• 招募中NCT04706910
  18F-DOPA II - PET Imaging Optimization
  III 期 · 干预性 · 2021/01/20University of Alberta
  加拿大
• 招募中NCT04205604
  18FluoroLDOPA PET Imaging for the Detection and Localization of Focal Congenital Hyperinsulinism
  II 期 · 干预性 · 2016/11/03Miguel Pampaloni
  美国
• 招募中NCT02021604
  Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma
  I 期 · 干预性 · 2013/10/09Cook Children's Health Care System
  美国
• 可获取（拓展性用药）NCT01916148
  18F-L-Fluoro-DOPA PET/CT Scan Localization of Focal Pancreatic Lesions in Subjects With Hyperinsulinemic Hypoglycemia
  拓展性用药Children's Hospital of Philadelphia
  美国

外部标识与链接