探讨弥散性血管内凝血(DIC)为首发表现先天性肝内门体静脉分流(CIPSVS)新生儿临床特点、诊疗及预后特征。

选择2022年4月17日、18日武汉儿童医院诊治的2例DIC为首发表现CIPSVS新生儿(患儿1、2)为研究对象。回顾性分析其临床病例资料，并对国内外数据库中关于新生儿CIPSVS相关研究文献进行复习。本研究遵循的程序经武汉儿童医院医学伦理委员会审核同意(审批文号：2021R050-E01)。患儿监护人对诊治均知情同意，并签署临床研究知情同意书。

①患儿1、2均以生后即发现全身皮肤淤斑或出血点等DIC临床症状为首发表现，经腹部彩色多普勒超声(CDUS)及腹部CT/MRI检查，分别诊断为门静脉-肝中静脉瘘(CIPSVS Ⅱ型)、静脉导管未闭(PDV)(CIPSVS Ⅴ型)。患儿1、2病程中均出现进行性肝功能受损，并且均合并动脉导管未闭(PDA)。对其进行内科抗DIC、护肝等对症治疗后，均好转出院，院外定期随访，CIPSVS Ⅱ型、PDV均预后良好。②文献复习结果：对包括本研究患儿1、2在内的28例CIPSVS新生儿(患儿3～28)的病例资料进行文献复习的结果显示，新生儿CIPSVS的主要实验室检查结果为肝功能异常及代谢异常，包括转氨酶异常或胆汁淤积(78.6%)、高氨血症(32.1%)、低血糖(14.3%)等，其他包括凝血功能异常(25.0%)、呼吸困难(21.4%)、血小板计数(PLT)减少(21.4%)及肺动脉高压(PH)(17.9%)等。CDUS检查，可在产前和生后作为该病胎儿、新生儿的初步诊断手段，腹部血管造影检查是诊断该病的金标准。53.6%该病新生儿经内科对症治疗后，异常分流可减少或自发关闭，35.7%的患儿采取手术干预。大多数患儿预后良好，仅3例(10.7%)患儿死亡。

新生儿CIPSVS临床罕见，其主要临床表现与肝脏合成及代谢功能异常相关。当新生儿出现不明原因严重DIC时，应考虑该病的可能性，治疗应个体化。

To explorer the clinical characteristics, diagnosis, treatment and prognosis of congenital intrahepatic portosystemic shunt (CIPSVS) with disseminated intravascular coagulation (DIC) as the initial manifestation in neonates.

Two neonates (patient 1, 2) with CIPSVS who presented with DIC as the initial manifestation on April 17 and 18, 2022, at Wuhan Children′s Hospital were selected as the study subjects. Their clinical case data were retrospectively analyzed, and relevant literature on neonatal CIPSVS in domestic and foreign databases was reviewed. This study was approved by the Medical Ethics Committee of Wuhan Children′s Hospital (Approval No. 2021R050-E01). The guardians of the children were informed consent for the diagnosis and treatment, and signed the informed consent forms.

① Both patient 1, 2 initially presented with clinical manifestations of DIC right after birth, such as skin bruising or hemorrhagic spots, which were diagnosed as portal-hepatic vein fistula (CIPSVS type Ⅱ) and patent ductus venosus (PDV) (CIPSVS type Ⅴ) by abdominal color Doppler ultrasound (CDUS) and abdominal CT/MRI, respectively. Patient 1, 2 exhibited progressive liver function impairment during the course of their illness and complicated with patent ductus arteriosus (PDA). After medical treatment with anti-DIC and liver protection measures, both patients improved and were discharged from the hospital, with regular follow-up outside the hospital. Their prognosis were good with closure of the type Ⅱ shunt and PDV. ② Literature review results: a literature review of 28 cases of neonatal CIPSVS, including patient 1, 2 in this study, revealed that the main laboratory findings of neonatal CIPSVS were abnormal liver function and metabolism, including abnormal transaminas or cholestasis (78.6%), hyperammonemia (32.1%), hypoglycemia (14.3%), as well as other findings like coagulation dysfunction (25.0%), respiratory distress (21.4%), decreased platelet count (PLT) (21.4%), and pulmonary hypertension (PH) (17.9%). CDUS could be used as a preliminary diagnostic method for the disease before and after childbirth, and abdominal angiography was the gold standard for diagnosis. After conservative medical treatment, abnormal shunts in 53.6% of children reduced or spontaneously closed, and surgical intervention was needed in 35.7% of children. Most children had a good prognosis, with only 3 (10.7%) children resulting in death.

Neonatal CIPSVS is a rare clinical condition, and its main clinical manifestations are related to abnormal liver synthesis and metabolic functions. When neonates present with unexplained severe DIC, the possibility of this disease should be considered, and treatment should be individualized.