Abstract: Objective To find out the clinical characteristics and histological features of patients with Alagille syndrome(ALGS). Methods A total of 27 patients diagnosed with ALGS in Beijing Friendship Hospital from January 2016 to February 2022 were retrospectively enrolled. The demographic characteristics, clinical presentation, liver biochemical tests, gene sequencing, liver histology, and clinical outcomes of the patients were analyzed. Results The common clinical features were growth retardation(16/27, 59.3%), facial features(8/27, 29.6%), cardiovascular involvement(16/27, 59.3%), butterfly vertebrae(10/27, 37.0%), renal involvement(8/27, 29.6%)and posterior embryonic(1, 3.7%). All the cases were accompanied by chronic cholestasis, among which 23(85.2%)cases had splenomegaly. In addition, there were 8 cases (29.6%)of esophageal and gastric varices, 10 cases (37.0%)of ascites, and 3 cases (11.1%)of hepatic lesions. The histological characteristics included ductopenia(16/27, 84.2%), portal inflammation(16/27, 84,2%), interface hepatitis(6/27, 31.6%), ductular reaction(6/27, 31.6%), cholestasis(12/27,63.2%)and cholate stasis(5/27,26.3%). All patients had different degrees of fibrosis. Among them, eight patients suffered from liver cirrhosis (42.1%). Gene sequencing showed that all patients had the JAG1 gene variant. There were 15 cases(68.2%)with spontaneous variants and one with the NOTCH2 gene variant. Conclusion In addition to the characteristic multiple organ involvement and cholestasis, attention should be paid to the role of portal hypertension and its complications in the progression of ALGS; Clinical symptoms combined with histological characteristics should be considered in infants due to the lack of the manifestation of ductopenia.

Key words: Alagille syndrome, Cholestasis, Gene variant, Pathology, Inherited metabolic liver disease