Step-by-step diagnosis in children with Alagille syndrome

Abstract

Introduction. Alagille Syndrome (arteriohepatic dysplasia) is the genetically determined, multisystemic autosomal dominant disease characterized by the formation of the pathology of the liver, heart, eyes, kidneys, central nervous system, ear and possessing specific phenotypic characteristics. In connection with this the great importance is belonged to the early diagnosis and timely initiation of the pathogenetic treatment of the disease. Aim. On the base on multivariate statistical analysis of the clinical diagnostic indices to create stepwise algorithm for diagnosis of the of the Alagille syndrome in infants for the timely administration of adjuvant therapy, organization of the monitoring for the patient and to reduce the level of disability. Materials and methods. Under observation there was 21 child (10 boys and 11 girls) with Alagille syndrome, there was performed continuous examination, analysis of the patient history and clinical diagnostic methods at the onset and during the dynamics of the disease. Results. With the aid of the multivariate statistical analysis there were revealed clinical and laboratory criteria for the diagnosis of Alagille syndrome in infants, with consequent composition of the step-by-step algorithm of the diagnosis of the disease. There was made an estimation of the severity of the liver dysfunction.