新生儿肝衰竭1例OA北大核心CSTPCD

The patient was a male infant,born full-term,admitted to the hospital at 28 days of age due to jaundice for 20 days and abdominal distension for 15 days.The patient developed symptoms of jaundice,hepatosplenomegaly,massive ascites,and progressively worsening liver function leading to liver failure,severe coagulation disorders,and thrombocytopenia one week after birth.Various treatments were administered,including anti-infection therapy,fluid restriction,use of diuretics,use of hepatoprotective and choleretic agents,intermittent paracentesis,blood exchange,and intravenous immunoglobulin,albumin,and plasma transfusions.However,the patient's condition did not improve,and on the 24th day of hospitalization,the family decided to discontinue treatment and provide palliative care.Sequencing of the patient's liver tissue and parental blood samples using whole-exome sequencing did not identify any pathogenic variants that could explain the liver failure.However,postmortem liver tissue pathology suggested congenital hepatic fibrosis(CHF).Given the rarity of CHF causing neonatal liver failure,further studies on the prognosis and pathogenic genes of CHF cases are needed in the future.This article provides a comprehensive description of the differential diagnosis of neonatal liver failure and introduces a multidisciplinary diagnostic and therapeutic approach to neonatal liver failure.[Chinese Journal of Contemporary Pediatrics,2024,26(2):213-218,V]