罕见病知识库 RareSeen

赖氨酸尿性蛋白耐受不良

Lysinuric protein intolerance

ORPHA:470疾病中国目录 第1批 · 65

定义 英文原文（暂无中文）

A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement.

别名

高双碱基氨基酸尿症

基本事实

遗传方式
常染色体隐性
发病年龄
婴儿期、新生儿期
患病率
1-9 / 100 000（Europe）

相关基因 1

基因名称关联类型
SLC7A7solute carrier family 7 member 7Disease-causing germline mutation(s) in

临床表型 77

极常见 99–80%1

  • 发育迟滞 HP:0001508

常见 79–30%48

  • 异常出血 HP:0001892
  • 肺间质形态异常 HP:0006530
  • 肾小管形态异常 HP:0000091
  • 丝氨酸代谢异常 HP:0012278
  • 贫血 HP:0001903
  • 精氨酸尿 HP:0003268
  • 骨髓细胞过多 HP:0031020
  • 慢性肾病 HP:0012622
  • 肝硬化 HP:0001394
  • 认知功能损害 HP:0100543
  • 低α-脂蛋白血症 HP:0003233
  • 肾小球滤过率下降 HP:0012213
  • 骨成熟延迟 HP:0002750
  • 腹泻 HP:0002014
  • 循环肝转氨酶水平升高 HP:0002910
  • 血浆瓜氨酸升高 HP:0011966
  • 喂养困难 HP:0011968
  • 婴儿型肌张力减退 HP:0008947
  • 肾小球肾炎 HP:0000099
  • 生长延迟 HP:0001510
  • 血尿 HP:0000790
  • 噬血细胞作用 HP:0012156
  • 肝功能衰竭 HP:0001399
  • 肝脏肿大 HP:0002240
  • 肝脾肿大 HP:0001433
  • 高丙氨酸血症 HP:0003348
  • 高氨血症 HP:0001987
  • 高胆固醇血症 HP:0003124
  • 高谷氨酰胺血症 HP:0003217
  • 高甘氨酸血症 HP:0002154
  • 高赖氨酸尿症 HP:0003297
  • 高脯氨酸血症 HP:0008358
  • 高甘油三酯血症 HP:0002155
  • 高β-脂蛋白血症 HP:0003141
  • 乳酸脱氢酶活性增高 HP:0025435
  • 智力障碍 HP:0001249
  • 肺泡蛋白沉积症 HP:0006517
  • 白细胞减少症 HP:0001882
  • 肾钙质沉着症 HP:0000121
  • 口服厌恶 HP:0012523
  • 骨质减少 HP:0000938
  • 骨质疏松 HP:0000939
  • 蛋白尿 HP:0000093
  • 肾小管功能障碍 HP:0000124
  • 呼吸功能不全 HP:0002093
  • 脂肪泻 HP:0002570
  • 血小板减少症 HP:0001873
  • 呕吐 HP:0002013

偶见 29–5%21

  • 心脏形态异常 HP:0001627
  • 循环免疫球蛋白水平异常 HP:0010701
  • 体液免疫异常 HP:0005368
  • 抗双链DNA 抗体阳性 HP:0020151
  • 昏迷 HP:0001259
  • 肝淀粉样变性 HP:0012280
  • 高血压 HP:0000822
  • 低纤维蛋白原血症 HP:0011900
  • 血清铁蛋白升高 HP:0003281
  • 血清锌含量增高 HP:0011424
  • 昏睡 HP:0001254
  • 巨核细胞减少症 HP:0005548
  • 膜性肾病 HP:0012578
  • 鸟氨酸尿症 HP:0003532
  • 乳清酸尿症 HP:0003218
  • 胰腺炎 HP:0001733
  • 肺纤维化 HP:0002206
  • 肾淀粉样病变 HP:0001917
  • 肾纤维化 HP:0030760
  • 肾小管性酸中毒 HP:0001947
  • 肾小管间质性肾炎 HP:0001970

罕见 <4–1%7

  • 抗核抗体阳性 HP:0003493
  • 循环补体水平降低 HP:0004431
  • 循环抗体水平降低 HP:0004313
  • 生长激素刺激试验反应降低 HP:0000824
  • 循环抗体水平升高 HP:0010702
  • 病理性骨折 HP:0002756
  • 反复细菌感染 HP:0002718

近两年的全球研究 81L2

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
    Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia
    JIMD reports · DOI · Europe PMC
  • 2026-06综述开放获取
    Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults
    Diagnostics (Basel, Switzerland)
  • 2026-05开放获取
    Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locus
    Mammalian genome : official journal of the International Mammalian Gen · DOI · Europe PMC
  • 2026-05开放获取
    SLC7A7 Downregulation in Monocytes Drives Immunosuppression and Osteosarcoma Progression
    International journal of genomics · DOI · Europe PMC
  • 2026-04综述开放获取
    Lysosomal checkpoints in renal autoimmunity: from antigen processing to metabolic-immune crosstalk
    Frontiers in immunology · DOI · Europe PMC
  • 2026-04
    Case report of a boy with autism spectrum disorder and lysinuric protein intolerance
    Psychiatric genetics · DOI · Europe PMC
  • 2026-03开放获取
    Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
    Nature genetics · 被引 3 · DOI · Europe PMC
  • 2026-03预印本
    Lysinuric protein intolerance presenting with recurrent infections, severe liver injury and anemia in the neonatal period: A case report with organic acidemia-like manifestations
    · DOI
  • 2026-03综述开放获取
    Role of solute carrier family 7 member 7 in cancer: opportunities for tumor microenvironment research
    Journal for immunotherapy of cancer · DOI · Europe PMC
  • 2026-03开放获取
    Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2026-03开放获取
    Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
    Journal of inherited metabolic disease · DOI · Europe PMC
  • 2026-02开放获取
    Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases
    Orphanet journal of rare diseases · DOI · Europe PMC
  • 2026-02开放获取
    Urine Metabolomics and Machine Learning Identify Metabolic Features and Potential Biomarkers of HTLV-1-Associated Myelopathy (HAM)
    International journal of molecular sciences
  • 2026-01综述开放获取
    Gene modification: Exploring the potential in treating kidney diseases
    Pharmacological research · DOI · Europe PMC
  • 2025-12综述开放获取
    Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies
    Journal of clinical medicine · DOI · Europe PMC
  • 2025-12开放获取
    Single-cell to pre-clinical evaluation of Trem2, Folr2, and Slc7a7 as macrophage-associated biomarkers for atherosclerosis
    Cardiovascular research · 被引 5 · DOI · Europe PMC
  • 2025-11开放获取
    Serum Cytokine Profiling Differentiates Underlying Diseases in Cytokine Storm Syndrome
    Arthritis & rheumatology (Hoboken, N.J.) · 被引 6 · DOI · Europe PMC
  • 2025-11病例报告
    Lysinuric protein intolerance: Allogeneic peripheral blood stem cell transplantation for an inborn error of metabolism and immunity
    Molecular genetics and metabolism · DOI · Europe PMC
  • 2025-11病例报告
    Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum
    BMJ case reports · DOI · Europe PMC
  • 2025-10开放获取
    Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant
    Biochemistry and biophysics reports · 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。

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。

  • Prohippur欧盟2016-08-29
    sodium benzoate
    Treatment of lysinuric protein intolerance
    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。

外部标识与链接

OrphanetOMIM:222700MONDO:0009109GARD:3335ICD-10 E72.0ICD-11 5C60.YClinicalTrials.gov 检索

发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号

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）