赖氨酸尿性蛋白耐受不良
Lysinuric protein intolerance
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 |
|---|---|---|
| SLC7A7 | solute carrier family 7 member 7 | Disease-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 92L2
2024/10 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。
- 2026-11开放获取Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method
- 2026-09综述开放获取Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum
- 2026-09开放获取Urinary creatinine in very low gestational age neonates: importance for interpretation of creatinine-normalized urinary amino acids
- 2026-09开放获取Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
- 2026-08综述开放获取Amino Acid Metabolism in Health and Disease
- 2026-08Metabolic alterations associated with immune dysfunction in lysinuric protein intolerance
- 2026-08综述开放获取Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications
- 2026-08开放获取The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening
- 2026-08综述病例报告开放获取From metabolic disorder to autoimmunity: lupus-like immune dysregulation in children with SLC7A7-associated lysinuric protein intolerance
- 2026-08Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction
- 2026-07开放获取Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
- 2026-07开放获取Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia
- 2026-06开放获取Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience
- 2026-06综述开放获取Importance of Recognizing Renal Tubular Disorders as a Cause of Bone Hypomineralization and Fractures in Adults
- 2026-06开放获取Extension of the Phase 3 Trial of Somatrogon in Children with Growth Hormone Deficiency: 3 Years of Safety and Efficacy
- 2026-05开放获取Comparison of Heated Humidified High-flow Nasal Cannula and Noninvasive Ventilation in Children with Acute Hypoxemic Respiratory Failure Using Clinical Respiratory Score: A Prospective Observational Study
- 2026-05开放获取Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang
- 2026-05开放获取Contrasting the genetic architecture of cardiac glutathione against other organs: unveiling a unique tissue-specific locus
- 2026-05开放获取SLC7A7 Downregulation in Monocytes Drives Immunosuppression and Osteosarcoma Progression
- 2026-04综述开放获取Lysosomal checkpoints in renal autoimmunity: from antigen processing to metabolic-immune crosstalk
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。
尚未获批的在研药物（1 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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2016-08-29sodium benzoateTreatment of lysinuric protein intolerance官方记录
数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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
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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）