新生儿糖尿病
Neonatal diabetes mellitus
定义 英文原文（暂无中文）
A group of rare diabetes mellitus characterized by neonatal diabetes mellitus presents with symptoms including hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis (which can be severe and lead coma), in a child within the first months of life. It encompasses several disorders in which diabetus mellitus may be transient or permanent. It may present as an isolated condition or as part of a syndrome.
别名
NDM
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 9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。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ABCC8 | ATP binding cassette subfamily C member 8 | ORPHA:99885 |
| GCK | glucokinase | ORPHA:99885 |
| GLIS3 | GLIS family zinc finger 3 | ORPHA:79118 |
| INS | insulin | ORPHA:99885 |
| KCNJ11 | potassium inwardly rectifying channel subfamily J member 11 | ORPHA:99885 |
| NARS2 | asparaginyl-tRNA synthetase 2, mitochondrial | ORPHA:79134 |
| PDX1 | pancreatic and duodenal homeobox 1 | ORPHA:99885 |
| PTF1A | pancreas associated transcription factor 1a | ORPHA:65288 |
| STAT3 | signal transducer and activator of transcription 3 | ORPHA:99885 |
近两年的全球研究 219L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-06病例报告Neonatal stress hyperglycemia mimicking diabetes mellitus secondary to massive intraparenchymal brain abscess due to escherichia coli sepsis: A case report
- 2026-06Neonatal Diabetes Mellitus in a Resource-Limited Setting: Clinical Spectrum, Genetic Heterogeneity, Impact of Malnutrition, and Outcomes with Simplified Basal Insulin Therapy
- 2026-06开放获取Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction
- 2026-06病例报告开放获取A Novel Renal Manifestation in <i>GLIS3</i>-Related Disorder in a Pediatric Patient With Cystic Nephroma
- 2026-06开放获取Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes
- 2026-06开放获取Functional evaluation of pancreatic islets from patients with Beckwith-Wiedemann syndrome and congenital hyperinsulinism
- 2026-05开放获取Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes
- 2026-04病例报告开放获取An Interesting Case of Sulphonylurea-Responsive Permanent Neonatal Diabetes Mellitus With Potassium Channel Mutation
- 2026-04开放获取Novel Phenotype due to <i>KCNJ11</i> Pathogenic Variant Associated with Maturity-Onset Diabetes of the Young-KCNJ-11
- 2026-04开放获取Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples
- 2026-04综述开放获取Emerging Insights into the Liver-Pancreas Axis: A Central Hub in the Pathogenesis of Diabetes and Metabolic Diseases
- 2026-04综述开放获取Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes
- 2026-04开放获取Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review
- 2026-04病例报告A novel multimorbidity: co-occurrence of neonatal diabetes mellitus and leukocyte adhesion deficiency type 1 in two siblings
- 2026-04综述开放获取A rapid review of genetic association studies of parent-of-origin effects and fetal growth
- 2026-03病例报告开放获取Five-year follow-up of incretin-based therapy in a patient with KCNJ11-related permanent neonatal diabetes: Achieving insulin discontinuation and sulfonylurea reduction
- 2026-03病例报告开放获取Early-Remitting Neonatal Diabetes in a Growth-Restricted Preterm Infant Requiring Insulin: A Case Report
- 2026-03综述开放获取Use of Small Organic Molecules to Improve Pancreatic Beta Cell Resilience to IAPP-Induced Proteotoxic Stress
- 2026-03综述病例报告开放获取Clinical characteristics and individualized treatment strategies for children with type 1 diabetes and exogenous insulin antibody syndrome: a retrospective case series and literature review
- 2026-03开放获取Probing uric acid-related prognostic genes and their molecular mechanisms in prostate cancer based on transcriptomic data
境外已获批用于本病的药物 1L2
欧盟 1 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Amglidia欧盟2018-05-24glibenclamide官方记录
已获孤儿药资格、尚未获批的在研药物（1 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- recombinant human insulin美国2026-02-05treatment of neonatal diabetes mellitus (monogenic forms of diabetes mellitus that present in infancy)官方记录
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 14L2
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。
登记为可入组 2
- 招募中NCT07492004China Monogenic Diabetes Registry中国研究中心 1 个：Tianjin
- 尚未开始招募NCT07314502Prenatal Exercise Including Perineal Massage and Maternal-Neonatal Outcomes中国研究中心 1 个：Guangzhou
其他状态的试验（12 项）
- 状态未知NCT01783717Effects of Exenatide on Obesity and/or Diabetes Mellitus Due to Hypothalamic Damage中国研究中心 1 个：Shanghai
- 状态未知NCT03569501Impact of DHA/Oat on Metabolic Health in Gestational Diabetes Mellitus中国研究中心 1 个：Shanghai
- 状态未知NCT04399434Gut Microbiota, SCFAs and Glucolipid Metabolism in Pregnant Women With Abnormal Fetal Size and Their Newborns中国研究中心 1 个：Wenzhou
- 状态未知NCT03928899The Best Timing of Delivery in Women With GDM Study中国研究中心 1 个：Beijing
- 状态未知NCT04182503Environmental Factors and Embryonic Development Project中国研究中心 19 个：Beijing、Changzhou、Guangzhou、Hanzhou、Huanggang、Huangshi 等 15 地
- 状态未知NCT04369313Effect of DCC on Neonatal Jaundice and Blood Gas Analysis in Infants Born to GDM Mothers中国研究中心 1 个：Wenzhou
- 状态未知NCT04101604Biomarkers of Common Eye Diseases中国研究中心 1 个：Guangzhou
- 已完成NCT04723160Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph中国研究中心 5 个：Beijing、Chengdu、Shijiazhuang、Tianjin、Wenzhou
- 已完成NCT05073978B-vitamin Levels and Adverse Pregnancy Outcomes中国研究中心 1 个：Beijing
- 已完成NCT03958760Characteristics, Treatment, and Economic Burden of Patients With CVD,CKD or at High Cardiovascular Risk中国研究中心 1 个：Tianjin
- 已完成NCT05760768The Effect of Individualized Exercise Guidance on Pregnancy Outcome中国研究中心 1 个：Beijing
- 状态未知NCT06076720Evaluation of New Head-mounted Visual Aids Among Patients With Low Vision中国研究中心 1 个：Guangzhou
中国境外的在招试验 78L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国27法国9英国6丹麦4澳大利亚4加拿大4德国3埃及3奥地利3巴基斯坦2意大利2荷兰2西班牙2印度尼西亚2另有 11 个国家/地区
CT.gov 报告命中 78 项，此处取回并展示最近的 15 项。
- 招募中NCT07083557Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)美国
- 尚未开始招募NCT07615803Study on Influencing Factors of Skin Complications Related to Insulin Injection in Children With Type 1 Diabetes Mellitus
- 尚未开始招募NCT07675720Concurrent Training vs Soleus Push-Ups on Neurogenesis-Related Biomarkers in Diabetic Neuropathy Patients巴基斯坦
- 尚未开始招募NCT07688070Verapamil Effect in Cystic Fibrosis-related Dysglycemia美国
- 尚未开始招募NCT07559773The ROOT Study: Scaling the 'Standard of Care Plus' Obstetric Nutrition Model to Optimize Maternal and Infant Health
- 尚未开始招募NCT07575152Estimation of Fetal Weight by Measuring Abdominal Circumference, Abdominal Subcutaneous Soft Tissue Thickness, Femur Length and Mid-thigh Soft Tissue Thickness
- 招募中NCT06513026Milk for Diabetes Prevention美国
- 招募中NCT06451757KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases丹麦、法国、德国、意大利、荷兰、英国、美国
- 尚未开始招募NCT07490964Polycystic Ovary Syndrome in Type 1 Diabetes西班牙
- 尚未开始招募NCT07475065The Effect of Oral DLBS1033 in Patients With Diabetic Polyneuropathy印度尼西亚
- 尚未开始招募NCT07382869to Investigate Impact of Diet and Physical Activity Based Nurse Led Interventions on Maternal Outcomes and Neonatal Outcomes in Women With Gestational Diabetes Mellitus (GDM)巴基斯坦
- 尚未开始招募NCT07462793COntinuous Glucose Monitoring in nEwborns of Mothers With Insulin-Treated Gestational Diabetes Mellitus波兰
- 尚未开始招募NCT07412561Instrumental Assessment of Plantar Hyperkeratosis in Healthy Subjects and Patients With Diabetes
- 尚未开始招募NCT07336966Does Recessive Optic Atrophy Due to WFS1 Exist?
- 尚未开始招募NCT07298174Wide Field OCTA in Ocular Diseases
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）