Alagille syndrome: current understanding of pathogenesis, diagnostic and treatment issues (literature review)
Alagille syndrome (AS) is a hereditary disease transmitted in an autosomal dominant manner, the main manifestation of which is cholestasis. The pathology is characterized by predominant damage to the liver, heart, as well as anomalies of the face, kidneys, eyes and skeleton. The key clinical sign of AS is congenital hypoplasia of the intrahepatic bile ducts, which occurs in 100% of patients. The disease is characterized by a variety of early symptoms, often a severe course and a serious prognosis, so it is important for doctors to be well informed about this pathology. Early diagnosis (in the first months of life) plays a decisive role, since it allows timely initiation of therapy, stabilization of the patient’s condition and improvement of his quality of life. The aim of this review цфы to summarize and expand knowledge about Alagille syndrome. The search and analysis of publications were performed in the PUBMED, ScienceDirect, eLIBRARY.RU databases.Antonova A.A., Yamanova G.A., Murzova O.A., Abdurakhimova P.M.
Keywords
arteriohepatic dysplasia
hypoplastic intrahepatic bile duct syndrome
cholestasis syndrome
About the Authors
Alena A. Antonova, Cand. Sci. (Med.), Associate Professor of the Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; fduecn-2010@mail.ru, ORCID: https://orcid.org/0000-0003-2581-0408 (corresponding author)Galina A. Yamanova, Assistant Professor, Department of Normal Physiology, Astrakhan State Medical University, Astrakhan, Russia; galina_262@mail.ru,
ORCID: https://orcid.org/0000-0003-2362-8979
Olga A. Murzova, Cand. Sci. (Med.), Associate Professor of the Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; olgamurzova@mail.ru, ORCID: https://orcid.org/0000-0003-0252-8872
Patimat M. Abdurakhimova, Student, Faculty of Pediatrics, Astrakhan State Medical University, Astrakhan, Russia; p.abdurakhimova@inbox.ru, ORCID: https://orcid.org/0000-0002-4381-7155
