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Abstract：
BACKGROUND: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive genetic disease, which is often diagnosed in children and young adults. The clinical manifestations of CHF were lack of specificity, mainly including portal hypertension related symptoms and signs, and normal or mildly abnormal liver function. When no obvious varices are indicated under endoscope, it can easily lead to misdiagnosis or missed diagnosis. We report this case in the hope of raising awareness of this disease.
METHODS: A 31 years old male patient with major clinical manifestations of unexplained thrombocytopenia for 5 years.
METHODS: Results of ultrasound, magnetic resonance imaging (MRI) and computed tomography portal venography (CTV) showed that patient had liver cirrhosis with portal hypertension and liver biopsy revealed CHF.
METHODS: Patient received ursodeoxycholic acid tablets, fuzheng huayu capsule, ganshuang granule, etc for liver protection treatment.
RESULTS: The condition of patient stabilized after symptomatic treatment. Spleen resection will be considered during follow-up.
CONCLUSIONS: This case reminds us that in case of patients with negative endoscopic evaluation, ultrasonic, computed tomography (CT) and MRI examination should be performed at the same time to determine whether patients have portal hypertension. When patients with normal or mildly abnormal liver function had unexplained liver cirrhosis complicated with portal hypertension, the possibility of CHF should be considered.
METHODS: A 31 years old male patient with major clinical manifestations of unexplained thrombocytopenia for 5 years.
METHODS: Results of ultrasound, magnetic resonance imaging (MRI) and computed tomography portal venography (CTV) showed that patient had liver cirrhosis with portal hypertension and liver biopsy revealed CHF.
METHODS: Patient received ursodeoxycholic acid tablets, fuzheng huayu capsule, ganshuang granule, etc for liver protection treatment.
RESULTS: The condition of patient stabilized after symptomatic treatment. Spleen resection will be considered during follow-up.
CONCLUSIONS: This case reminds us that in case of patients with negative endoscopic evaluation, ultrasonic, computed tomography (CT) and MRI examination should be performed at the same time to determine whether patients have portal hypertension. When patients with normal or mildly abnormal liver function had unexplained liver cirrhosis complicated with portal hypertension, the possibility of CHF should be considered.
摘要：
背景：先天性肝纤维化（CHF）是一种罕见的常染色体隐性遗传病，这通常被诊断为儿童和年轻人。CHF的临床表现缺乏特异性,主要包括门静脉高压相关的症状和体征,肝功能正常或轻度异常。当内镜下没有明显静脉曲张时，易导致误诊或漏诊。我们报告这一病例，希望提高对这种疾病的认识。
方法：1例31岁男性患者，主要临床表现为不明原因的血小板减少症5年。
方法：超声结果，磁共振成像（MRI）和计算机断层扫描门静脉造影（CTV）显示患者患有肝硬化并门脉高压，肝活检显示CHF。
方法：患者接受熊去氧胆酸片，扶正化瘀胶囊,干爽颗粒,等用于肝脏保护治疗。
结果：对症治疗后病情稳定。在随访期间将考虑脾切除。
结论：此病例提醒我们，如果内镜评价为阴性的患者，超声波,应同时进行计算机断层扫描（CT）和MRI检查，以确定患者是否患有门静脉高压症。当肝功能正常或轻度异常患者出现原因不明的肝硬化合并门脉高压时,应考虑CHF的可能性。
方法：1例31岁男性患者，主要临床表现为不明原因的血小板减少症5年。
方法：超声结果，磁共振成像（MRI）和计算机断层扫描门静脉造影（CTV）显示患者患有肝硬化并门脉高压，肝活检显示CHF。
方法：患者接受熊去氧胆酸片，扶正化瘀胶囊,干爽颗粒,等用于肝脏保护治疗。
结果：对症治疗后病情稳定。在随访期间将考虑脾切除。
结论：此病例提醒我们，如果内镜评价为阴性的患者，超声波,应同时进行计算机断层扫描（CT）和MRI检查，以确定患者是否患有门静脉高压症。当肝功能正常或轻度异常患者出现原因不明的肝硬化合并门脉高压时,应考虑CHF的可能性。
