胰岛素抵抗综合征B型
Insulin-resistance syndrome type B
定义 英文原文（暂无中文）
A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、成年期、儿童期、老年期
临床表型 50
极常见 99–80%14
- 脂肪酸代谢异常 HP:0004359
- 口服葡萄糖耐量异常 HP:0004924
- 黑棘皮病 HP:0000956
- 自身免疫 HP:0002960
- 红细胞沉降速度升高 HP:0003565
- 空腹高胰岛素血症 HP:0008283
- 糖耐量异常 HP:0001952
- 高血糖 HP:0003074
- 高胰岛素血症 HP:0000842
- 低甘油三酯血症 HP:0012153
- 胰岛素抵抗 HP:0000855
- 餐后高血糖 HP:0011998
- 系统性红斑狼疮 HP:0002725
- 体重减轻 HP:0001824
常见 79–30%19
- 脂代谢异常 HP:0003119
- 体重异常 HP:0004323
- 循环瘦素浓度异常 HP:0004361
- 抗核抗体阳性 HP:0003493
- 体重下降 HP:0004325
- 循环补体B因子浓度降低 HP:0005416
- 卵巢增大 HP:0100879
- 增大的多囊卵巢 HP:0008675
- 疲乏 HP:0012378
- 糖尿 HP:0003076
- 多毛症；女性多毛症 HP:0001007
- 低蛋白血症 HP:0003073
- 血清睾酮水平增高 HP:0030088
- 胰岛素抵抗性糖尿病 HP:0000831
- 白细胞减少症 HP:0001882
- 肾炎 HP:0000123
- 多囊卵巢 HP:0000147
- 蛋白尿 HP:0000093
- 2型糖尿病 HP:0005978
偶见 29–5%17
- 唾液腺形态异常 HP:0010286
- 脱发 HP:0001596
- 胆汁性肝硬化 HP:0002613
- 糖尿病酮症酸中毒 HP:0001953
- 空腹低血糖 HP:0003162
- 霍奇金淋巴瘤 HP:0012189
- 高胰岛素性低血糖 HP:0000825
- 体重增加 HP:0004324
- 循环IgA水平升高 HP:0003261
- 循环IgG水平升高 HP:0003237
- 酮症 HP:0001946
- 淋巴瘤 HP:0002665
- 多发性骨髓瘤 HP:0006775
- 骨关节炎 HP:0002758
- 肺炎 HP:0002090
- 皮疹 HP:0000988
- 血小板减少症 HP:0001873
近两年的全球研究 38L2
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。
- 2026-07病例报告Type B insulin resistance syndrome coexisting with aplastic anemia responsive to early immunosuppressive therapy
- 2026-06Early Remission of Type B Insulin Resistance Syndrome Achieved by Glucocorticoid-based Immunosuppressive Therapy and Visualized by Intermittently Scanned Continuous Glucose Monitoring
- 2026-06病例报告Two faces of autoimmune hyperinsulinemia: contrasting type B insulin resistance syndrome and exogenous insulin antibody syndrome
- 2026-05病例报告开放获取Refractory severe type B insulin resistance treated with daratumumab
- 2026-05综述病例报告开放获取A Case Report: Treatment, follow-up, and literature review of type A insulin resistance syndrome caused by a <i>De Novo</i> INSR c.3328G>C mutation
- 2026-05综述病例报告开放获取Type B insulin resistance with glycemic extremes: a case report and literature review
- 2026-05综述开放获取Bridging the Practice Gap: Polycystic Ovary Syndrome as an Under-Recognised Risk State for Ischaemic Stroke and Cardiovascular Disease
- 2026-05开放获取Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance
- 2026-05Insulin Receptor Family Autoantibodies in Patients with Type B Insulin Resistance
- 2026-03开放获取Abstracts from The XXV Brazilian Diabetes Society Meeting
- 2026-02病例报告开放获取Hypoglycemia secondary to type B insulin resistance syndrome
- 2026-02Rheumatologic Manifestations of Patients With Type B Insulin Resistance
- 2026-02病例报告开放获取Ovarian stimulation toward oocyte cryopreservation for fertility preservation in a patient with Hirata syndrome: a clinical challenge in assisted reproduction
- 2026-02Type B Insulin Resistance: A Case Report of a Rare Complication of Systemic Lupus Erythematosus
- 2026-01综述开放获取Insulin Resistance and Inflammation
- 2026-01病例报告开放获取A pitfall in diagnosing type B insulin resistance syndrome: Suspected antibody interference in a patient with insulin allergy
- 2026-01综述病例报告开放获取Exogenous insulin autoimmune syndrome: a case report and literature review
- 2026-01病例报告开放获取Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature
- 2026-01综述Severe Insulin Resistance: Diagnosis and Management
- 2025-12病例报告开放获取Long-term remission of type B insulin resistance syndrome with immunotherapy: A case report
中国境外的在招试验 1L2
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。
意大利1
共 1 项。
- 招募中NCT07181733BNP in Pediatric Metabolic Syndrome意大利
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）