关键词:

Abstract:

A retrospective analysis was conducted concerning the clinical manifestations，biochemical indicators，liver tissue pathology features，genetic testing，and follow-up results of infantile fatty liver disease caused by different etiologies in 3 cases collected from 2018 to 2023.Additionally，relevant literature was reviewed to explore diagnostic and therapeutic strategies for infantile fatty liver disease， in order to provide reference for early accurate diagnosis and improving prognosis of infantile fatty liver disease The results showed that among the three cases，two were male and one was female，with onset age ranging from 2 to 7 months.Case 1 and Case 3 initially presented with cholestasis，while Case 2 presented with abnormal transaminase levels.The primary clinical manifestations and auxiliary examination features included：Case 1 was with cholestasis，elevated transaminases，increased AFP levels，hypoglycemia，coagulation dysfunction，hyperornithinemia，hepatomegaly and hepatic steatosis，harboring a homozygous mutation c.852-855del in the SLC25A13 gene.Case 2 presented with elevated transaminases，hypertriglyceridemia，increased total bile acids and bilirubin，along with hepatomegaly，hepatic steatosis，and liver fibrosis，having a heterozygous mutation c.220-2A>G and c.806G>A（p.R269Q）in the GPD1 gene.Case 3 exhibited cholestasis，elevated transaminases，coagulation dysfunction，hepatomegaly，and steatosis，accompanied by neurological symptoms，with a homozygous mutation c.207G>C（p.W69C）in the MPV17 gene.After dietary management and hepatoprotective and choleretic treatment，Cases 1 and 2 recovered well，while Case 3 died of liver failure. The causes of infantile fatty liver disease are complex，and clinical diagnosis and treatment require a comprehensive assessment of biochemical indicators，coagulation function，and physical examination. Genetic testing helps to clarify the etiology.

Key words: