遗传性果糖不耐受症
Hereditary fructose intolerance
定义 英文原文（暂无中文）
Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.
别名
遗传性果糖-1-磷酸醛缩酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ALDOB | aldolase, fructose-bisphosphate B | Disease-causing germline mutation(s) in |
临床表型 24
极常见 99–80%2
- 腹痛 HP:0002027
- 循环醛缩酶浓度降低 HP:0012545
常见 79–30%3
- 腹泻 HP:0002014
- 生长延迟 HP:0001510
- 恶心 HP:0002018
偶见 29–5%15
- 腹胀 HP:0003270
- 凝血因子级联反应异常 HP:0003256
- 慢性肝功能衰竭 HP:0100626
- 慢性肾病 HP:0012622
- 便秘 HP:0002019
- 发作性多汗症 HP:0001069
- 肝脏肿大 HP:0002240
- 高镁血症 HP:0002918
- 高尿酸血症 HP:0002149
- 低磷血症 HP:0002148
- 黄疸 HP:0000952
- 代谢性酸中毒 HP:0001942
- 反应性低血糖 HP:0012051
- 肾功能不全 HP:0000083
- 呕吐 HP:0002013
罕见 <4–1%4
- 白内障 HP:0000518
- 昏迷 HP:0001259
- 昏睡 HP:0001254
- 癫痫发作 HP:0001250
近两年的全球研究 125L2
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。
- 2026-09开放获取Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye
- 2026-09开放获取Serum uric acid in pediatric metabolic assessment: the scientific rationale for routine screening and the urgent need for age- and sex-specific diagnostic thresholds
- 2026-08综述开放获取From Traditional Remedy to Evidence-Based Phytotherapeutic Agent: <i>Hedera helix</i> L. in Respiratory Medicine
- 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Declared Inactive Ingredients in US Oral Drug Listings: A Reproducible Census of Prevalence, Labeling Coverage, and Within-Name Variation
- 2026-08综述开放获取Nutrition in Pediatric Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)
- 2026-08综述开放获取Sugar Shockwaves: How the Fructose-Glucose-ChREBP Pathway Hijacks Liver Metabolism
- 2026-08开放获取Current Dietary Practices in Hereditary Fructose Intolerance: Results from a National Survey Across 15 Italian Metabolic Centres
- 2026-07Hereditary Fructose Intolerance Presenting with Hematochezia
- 2026-07开放获取TASL practice guidance for the diagnosis and management of metabolic dysfunction-associated steatotic liver disease (MASLD)
- 2026-07Endogenous fructose production in patients and mice with aldolase B deficiency
- 2026-07开放获取Delayed diagnosis of hereditary fructose intolerance presenting as chronic lean steatosis in an adolescent
- 2026-07开放获取Optimization of [<sup>18</sup>F]FBPA production for clinical translation through precursor development and manufacturing route evaluation
- 2026-06综述Ketohexokinase: A central mediator of fructose-associated pathogenesis and promising therapeutic target
- 2026-06开放获取A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil
- 2026-06Abstract
- 2026-06开放获取Fructose malabsorption associated with functional abdominal bloating: Case-control study
- 2026-05综述开放获取Genetic testing in liver diseases: Clinical applications
- 2026-05开放获取When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review
- 2026-05开放获取Fructose 1-phosphate inhibits mannose phosphate isomerase to suppress hepatocellular carcinogenesis
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。
法国1
共 1 项。
- 尚未开始招募NCT07337707New Microbiota-endocrine Axis in Fructose Malabsorption-caused Visceral Hypersensitivity in Irritable Bowel Syndrome.法国
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）