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| Agent | 职责 | 技术 |\n|---|-------|------|------|\n| ① | **症状收集Agent** | 智能问诊，收集主诉、现病史、既往史、家族史 | LLM + 症状树 |\n| ② | **文献检索Agent** | 检索PubMed、OMIM、Orphanet等数据库 | PubMed API + OMIM API |\n| ③ | **鉴别诊断Agent** | 基于症状+文献给出鉴别诊断列表 | LLM + 罕见病知识库 |\n| ④ | **专家会诊Agent** | 模拟多专家（遗传学家、神经科、免疫科）讨论 | Multi-Agent Debate |\n| ⑤ | **报告生成Agent** | 生成结构化诊断报告（ICD-10编码） | 模板引擎 + LLM |\n| ⑥ | **患者教育Agent** | 用通俗语言解释病情、治疗方案、预后 | LLM + 医学知识图谱 |\n\n---\n\n## 🔧 技术架构\n\n```\n┌─────────────────────────────────────────────────────┐\n│                    Frontend (React)                  │\n│            聊天界面 + 诊断报告 + 可视化               │\n└──────────────────────┬──────────────────────────────┘\n                       │ REST API\n┌──────────────────────▼──────────────────────────────┐\n│                  FastAPI Backend                     │\n│  ┌─────────────────────────────────────────────┐    │\n│  │           CrewAI Orchestrator                │    │\n│  │  ┌─────┐ ┌─────┐ ┌─────┐ ┌─────┐ ┌─────┐  │    │\n│  │  │Agent│ │Agent│ │Agent│ │Agent│ │Agent│  │    │\n│  │  │  ①  │ │  ②  │ │  ③  │ │  ④  │ │  ⑤⑥ │  │    │\n│  │  └──┬──┘ └──┬──┘ └──┬──┘ └──┬──┘ └──┬──┘  │    │\n│  │     └───────┴───────┴───────┴───────┘      │    │\n│  └─────────────────────────────────────────────┘    │\n│                       │                              │\n│  ┌────────────────────▼────────────────────────┐    │\n│  │            External APIs                     │    │\n│  │  PubMed · OMIM · Orphanet · HPO · ICD-10   │    │\n│  └─────────────────────────────────────────────┘    │\n│                       │                              │\n│  ┌────────────────────▼────────────────────────┐    │\n│  │           Data Layer                         │    │\n│  │  rare-diseases.json · symptom-tree.json      │    │\n│  │  Redis Cache · PostgreSQL                    │    │\n│  └─────────────────────────────────────────────┘    │\n└─────────────────────────────────────────────────────┘\n```\n\n**核心依赖：**\n- **CrewAI** — 多Agent编排框架\n- **PubMed E-utilities API** — 生物医学文献检索\n- **OMIM API** — 人类孟德尔遗传数据库\n- **Orphanet API** — 罕见病数据库\n- **HPO (Human Phenotype Ontology)** — 表型本体\n- **FastAPI** — 后端API服务\n- **React + TypeScript** — 前端界面\n- **PostgreSQL** — 持久化存储\n- **Redis** — 缓存与会话管理\n\n---\n\n## 📊 罕见病数据库\n\n内含 **30+ 种常见罕见病**的结构化数据，覆盖遗传、神经、免疫、代谢等领域：\n\n| 疾病名称 | OMIM ID | 领域 | 发病率 |\n|----------|---------|------|--------|\n| 亨廷顿病 (Huntington's Disease) | #143100 | 神经 | 5-10/10万 |\n| 囊性纤维化 (Cystic Fibrosis) | #219700 | 呼吸 | 1/2500-3500 |\n| 杜氏肌营养不良 (Duchenne MD) | #310200 | 神经肌肉 | 1/3500-5000 |\n| 马凡综合征 (Marfan Syndrome) | #154700 | 结缔组织 | 1/5000 |\n| 苯丙酮尿症 (PKU) | #261600 | 代谢 | 1/10000-15000 |\n| 肌萎缩侧索硬化 (ALS) | #105400 | 神经 | 2-3/10万 |\n| 戈谢病 (Gaucher Disease) | #230800 | 代谢 | 1/40000-60000 |\n| 法布里病 (Fabry Disease) | #301500 | 代谢 | 1/40000-117000 |\n| 威尔逊病 (Wilson Disease) | #277900 | 代谢 | 1/30000 |\n| 成骨不全症 (Osteogenesis Imperfecta) | #166200 | 骨骼 | 1/15000-20000 |\n| 脊髓性肌萎缩症 (SMA) | #253300 | 神经肌肉 | 1/6000-10000 |\n| 结节性硬化症 (TSC) | #191100 | 神经皮肤 | 1/6000-10000 |\n| 雷特综合征 (Rett Syndrome) | #312750 | 神经发育 | 1/10000-15000 |\n| Prader-Willi综合征 | #176270 | 遗传 | 1/15000-25000 |\n| Angelman综合征 | #105830 | 遗传 | 1/12000-20000 |\n| 威廉姆斯综合征 | #194050 | 遗传 | 1/7500-10000 |\n| Noonan综合征 | #163950 | 遗传 | 1/1000-2500 |\n| Alport综合征 | #301050 | 肾脏 | 1/5000-10000 |\n| 遗传性出血性毛细血管扩张症 (HHT) | #187300 | 血管 | 1/5000-8000 |\n| 白化病 (Albinism) | #203100 | 皮肤 | 1/17000-20000 |\n| 先天性肾上腺皮质增生 (CAH) | #201910 | 内分泌 | 1/10000-15000 |\n| 糖原累积病 (GSD) | #232200 | 代谢 | 1/20000-43000 |\n| 肝豆状核变性 | #277900 | 神经代谢 | 1/30000 |\n| Ehlers-Danlos综合征 | #130000 | 结缔组织 | 1/5000 |\n| Stargardt病 | #248200 | 眼科 | 1/10000 |\n| 视网膜色素变性 (RP) | #268000 | 眼科 | 1/4000 |\n| 血友病A (Hemophilia A) | #306700 | 血液 | 1/5000-10000 |\n| 血友病B (Hemophilia B) | #306900 | 血液 | 1/25000-30000 |\n| 阵发性睡眠性血红蛋白尿 (PNH) | #311770 | 血液 | 1-2/10万 |\n| Castleman病 | — | 血液/免疫 | 1-2/10万 |\n| POEMS综合征 | — | 神经/血液 | 罕见 |\n\n> 完整数据见 [`data/rare-diseases.json`](data/rare-diseases.json)，包含每种疾病的症状、诊断标准、治疗方案。\n\n---\n\n## 🚀 快速开始\n\n### 环境要求\n\n- Python 3.9+\n- Node.js 18+ (前端)\n- PostgreSQL 14+\n- Redis 7+\n\n### 安装\n\n```bash\n# 克隆仓库\ngit clone https://github.com/MoKangMedical/medichat-rd.git\ncd medichat-rd\n\n# 后端依赖\npip install -r requirements.txt\n\n# 前端依赖\ncd frontend && npm install && cd ..\n\n# 配置环境变量\ncp .env.example .env\n# 编辑 .env 填入 API keys\n```\n\n### 配置\n\n```bash\n# .env 关键配置\nOPENAI_API_KEY=sk-xxx          # 或其他LLM API key\nPUBMED_API_KEY=xxx             # NCBI E-utilities API key\nOMIM_API_KEY=xxx               # OMIM API key\nDATABASE_URL=postgresql://...  # PostgreSQL连接\nREDIS_URL=redis://localhost    # Redis连接\n```\n\n### 运行\n\n```bash\n# 启动后端\nuvicorn backend.main:app --reload --port 8000\n\n# 启动前端\ncd frontend && npm run dev\n\n# 或使用Docker\ndocker-compose up -d\n```\n\n### 运行Agent诊断流程\n\n```python\nfrom src.crew import MediChatCrew\n\ncrew = MediChatCrew()\nresult = crew.run_diagnosis(\n    patient_input=\"我最近经常感到肌肉无力，走路容易摔倒，上下楼梯困难，已经持续了3个月\"\n)\nprint(result.report)\n```\n\n---\n\n## 📁 项目结构\n\n```\nmedichat-rd/\n├── README.md                    # 项目说明\n├── data/\n│   ├── rare-diseases.json       # 30+罕见病数据库\n│   └── symptom-tree.json        # 结构化症状树\n├── src/\n│   ├── agents/\n│   │   ├── symptom_collector.py      # 症状收集Agent\n│   │   ├── literature_searcher.py    # 文献检索Agent\n│   │   └── differential_diagnosis.py # 鉴别诊断Agent\n│   └── crew.py                  # CrewAI编排\n├── examples/\n│   └── case-study.md            # 3个诊断案例\n├── backend/\n│   ├── main.py                  # FastAPI入口\n│   ├── rare_disease_api.py      # 罕见病API\n│   ├── pubmed_service.py        # PubMed服务\n│   └── ...\n├── frontend/                    # React前端\n├── docker-compose.yml           # Docker编排\n└── .env.example                 # 环境变量模板\n```\n\n---\n\n## 🔒 隐私合规\n\n### HIPAA 合规\n\n- ✅ 所有PHI（受保护健康信息）加密存储（AES-256）\n- ✅ 传输层TLS 1.3加密\n- ✅ 访问控制与审计日志\n- ✅ 数据最小化原则\n- ✅ 自动脱敏处理\n- ✅ BAA（业务关联协议）覆盖所有第三方服务\n\n### GDPR 合规\n\n- ✅ 数据处理合法性基础（同意/合法利益）\n- ✅ 数据主体权利（访问、删除、可携带）\n- ✅ 数据保护影响评估（DPIA）\n- ✅ 数据泄露通知机制（72小时内）\n- ✅ DPO（数据保护官）指定\n\n### 数据安全\n\n- 患者数据本地化存储，不传输至第三方LLM\n- LLM仅接收脱敏后的症状描述\n- 所有API调用通过安全网关\n- 定期安全审计与渗透测试\n\n> 详见 [`PRIVACY_POLICY.md`](PRIVACY_POLICY.md) 和 [`SECURITY.md`](SECURITY.md)\n\n---\n\n## 📚 参考资源\n\n- [OMIM - Online Mendelian Inheritance in Man](https://omim.org/)\n- [Orphanet - 罕见病门户](https://www.orpha.net/)\n- [HPO - Human Phenotype Ontology](https://hpo.jax.org/)\n- [PubMed](https://pubmed.ncbi.nlm.nih.gov/)\n- [NORD - National Organization for Rare Disorders](https://rarediseases.org/)\n- [EURORDIS - 欧洲罕见病组织](https://www.eurordis.org/)\n\n---\n\n## 🤝 贡献\n\n欢迎贡献！请查看 [CONTRIBUTING.md](CONTRIBUTING.md)。\n\n## 📄 License\n\nMIT License - 详见 [LICENSE](LICENSE)\n\n---\n\n> ⚠️ **免责声明：** MediChat-RD 仅供辅助诊断参考，不构成医疗建议。所有诊断结果需由执业医师确认。如有紧急情况，请立即就医。\n","readmeExcerpt":"💊 MediChat-RD **多Agent协作的罕见病智能诊断平台** — 用AI多Agent系统辅助罕见病诊断，缩短确诊时间 $1 $1 $1 $1 --- 🎯 一句话 **患者输入症状 → 6个AI Agent协作 → 30分钟输出结构化诊断报告**，将罕见病从平均 **5-7年确诊时间** 压缩到 **30分钟AI会诊**。 --- 🏗️ 核心功能：6大Agent协作 | # 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