多囊肝的临床诊疗进展

Progresses of treatment and diagnosis of polycystic liver disease

多囊肝(PLD)是一种罕见的遗传性疾病,可以独立成病也可作为常染色体显性多囊肾和常染色体隐性多囊肾的伴随症状。PLD的致病基因以及形成机制复杂多样,尚未完全明了,目前认为与多因素引起的先天胆管发育异常有关。PLD表现为散在的多发肝脏囊肿,大多数PLD患者无症状,但在少数患者中,随着囊肿数量及体积的不断增长而增大的肝脏会压迫周围器官导致腹胀,呼吸急促,食管反流,腹痛和背痛等症状,从而影响生活质量。使用超声检查、CT或MRI可以帮助诊断PLD,在无家族史的患者中,肝囊肿数量>20个时可予以PLD的诊断,若可进行基因分析则可从基因层面进行PLD的诊断并明确具体疾病分类。对于伴随症状的PLD患者,根据患者的全身情况以及病变范围的不同,可选择不同的治疗方案。目前对于PLD的治疗主要分为药物治疗与外科治疗。在药物治疗方案中,研究表明生长抑素类似物、哺乳动物西罗莫司靶蛋白、熊去氧胆酸、血管加压素2受体拮抗剂等具有潜在治疗能力,但目前被广泛认可并应用于临床仅有生长抑素类似物,其余种类药物仍需进一步高质量研究以确定其安全性及有效性。常使用的外科治疗手段包括囊肿穿刺抽液及硬化治疗、囊肿开窗去顶术、经导管动脉栓塞术、肝切除术和肝移植术等,其中,肝移植是唯一可以根治的术式。需要注意的是,近年来临床上PLD的诊疗尚未有重大突破。笔者针对目前PLD临床诊疗的进展状况以及各治疗方案临床应用的方方面面进行总结,以期加深对目前PLD临床诊疗状况的理解以及指引未来可能的突破方向。另外根据所在医疗中心的经验总结,提供了本中心针对PLD的诊疗流程以供参考。

Polycystic liver disease(PLD)is a rare inherited disorder that can exist independently,or as an accompanying symptom of autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease.The pathogenic genes and associated mechanisms of PLD are complex and diverse,which are still not completely clear,and are now considered to be associated with the developmental abnormalities of the bile ducts caused by various factors.PLD is characterized by multiple scattered liver cysts,which cause no symptoms in majority of cases,but will cause symptoms in some cases such as abdominal distention,tachypnea,esophageal reflux,abdominal pain and back pain as cysts grow in size and number,and thereby affect the quality of life.The use of ultrasound,CT or magnetic MRI can help to diagnose PLD.Among patients with no family history,the diagnosis of PLD can be made when the number of hepatic cysts exceeds 20. Furthermore, if genetic analysis is available, PLD can be diagnosed at the genetic level and classified. For symptomatic PLD patients, different treatment schemes can be selected according to the different general conditions and the ranges affected by the lesions. The treatments of PLD mainly include the pharmacotherapy and surgical intervention. For pharmacotherapy, studies have shown that somatostatin analogues, mammalian target of rapamycin, ursodeoxycholic acid, vasopressin 2 receptor antagonists have potentially therapeutic capacity, however currently only the somatostatin analogues are widely accepted and used in clinical practice, while the others need further researches to validate the safety and effectiveness. The commonly used surgical intervention includes cyst aspiration and sclerosis, fenestration, transcatheter arterial embolization, hepatic resection, and liver transplantation, in which liver transplantation is the only method of radical treatment. However, it should be noted that there is no breakthrough in diagnosis and treatment of PLD at percent. In this article, the authors address the progress of clinical diagnosis and treatment of PLD and comprehensive information of clinical application of the treatments in order to deepen the understanding of the current clinical diagnosis and treatment of PLD and guide the future direction. In addition, the diagnosis and treatment process according to the experience of our medical center are provided for reference.