Advances in the diagnosis and treatment of pediatric idiopathic non-cirrhoticportal hypertension
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摘要: 特发性非肝硬化门静脉高压症(idiopathic non-cirrhotic portal hypertension，INCPH)在儿童中极为罕见，具有不同于成人的临床表现和病因特征。成人患者通常转氨酶和胆红素水平正常，而儿童患者则更可能出现包括黄疸在内的肝功能异常。INCPH的潜在病因包括自身免疫性疾病、感染、易栓症、药物及毒素等。儿童INCPH的一个显著特点是可能出现家族病例，已发现与HLR-DR3、FOPV、KCNN3和DGUOK等基因突变相关病例。因此，在对儿童INCPH进行诊断时，应考虑进行基因检测。儿童早期患者可能没有明显的门静脉高压症表现，不符合经典INCPH的诊断。建议扩展INCPH的定义，以便更全面地收集相关数据，更好地研究儿童INCPH的特征。
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关键词:
- 特发性非肝硬化门静脉高压症 /
- 儿童 /
- 临床特点 /
- 病因
Abstract: Idiopathic non-cirrhotic portal hypertension (INCPH) is extremely rare in children and exhibits clinical presentations and etiological characteristics distinct from those in adults. While adult patients typically have normal transaminase and bilirubin levels, pediatric patients are more likely to present with liver function abnormalities, including jaundice. The potential etiologies of INCPH include autoimmune diseases, infections, thrombophilia, drugs, and toxins. A notable feature of pediatric INCPH is the possibility of familial cases, with reported associations to mutations in genes such as HLR-DR3, FOPV, KCNN3, and DGUOK. Therefore, genetic testing should be considered when diagnosing INCPH in children. Early-stage pediatric INCPH may lack overt manifestations of portal hypertension, which can prevent a diagnosis based on classic INCPH criteria. It is recommended to expand the definition of INCPH to better capture relevant data and improve understanding of its characteristics in children.-
Key words:
- idiopathic non-cirrhotic portal hypertension /
- children /
- clinical features /
- etiology
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表 1 INCPH病例系列
例 指标 系列1 系列2* 系列3 系列4 系列5 系列6 系列7 样本量 151 28 12 18 43 69 338 门静脉高压并发症 98 23 3 4 12 29 338 脾大 146 10 4/5 14 - 69 314 肝脏结节 3 6 - 5/2 17 - 22.2% 脾亢 82 - 5 - 8 - 233 静脉曲张(出血) 98(98) 11(9) 3(0) 16(-) - 25 (85) 脑病 3 6 0 - - 5 - 腹水 15 - 0 12 3 18 - 肝肺综合征 - 2 1 - - - - 自身抗体阳性 2 0* 6 - 25 - - *系列2排除了自身抗体阳性的患者。 
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