XX Wang, F Yu, B Wang

Abstract

Objective: To understand infant Citrin deficiency as a type of infantile cholestasis, and further improve the understanding of infantile cholestasis and Citrin deficiency, provide more effective treatment and prognosis for children. Method: 4 cases of infantile cholestasis hospitalised patients finally diagnosed infantile baby Citrin deficiency in the Department of Endocrine and Genetic Metabolism in Children of Hubei Maternal and Child Health Care Hospital, analyses the characteristics of medical history, the relevant test results, after treatment and after follow-up. Results: Infant with simple Citrin deficiency syndrome are treated with symptomatic treatment, the clinical symptoms are obviously relieved, and the indexes of liver function can be gradually restored to normal. Conclusion: To infants without cholestasis caused by the surgical condition and clear infection, early haematuria, tandem mass spectrometry, and related gene examination should be perfected to identify the cause. Infants with Citrin deficiency usually have a good prognosis.