Alagille syndrome: current understanding of pathogenesis, diagnostic and treatment issues (literature review)

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Resumo

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.

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Sobre autores

Alyona Antonova

Astrakhan State Medical University

Autor responsável pela correspondência
Email: fduecn-2010@mail.ru
ORCID ID: 0000-0003-2581-0408

Cand. Sci. (Med.), Associate Professor of the Department of Hospital Pediatrics and Neonatology

Rússia, Astrakhan

Galina Yamanova

Astrakhan State Medical University

Email: galina_262@mail.ru
ORCID ID: 0000-0003-2362-8979

Assistant Professor, Department of Normal Physiology

Rússia, Astrakhan

Olga Murzova

Astrakhan State Medical University

Email: olgamurzova@mail.ru
ORCID ID: 0000-0003-0252-8872

Cand. Sci. (Med.), Associate Professor of the Department of Hospital Pediatrics and Neonatology

Rússia, Astrakhan

Patimat Abdurakhimova

Email: p.abdurakhimova@inbox.ru
ORCID ID: 0000-0002-4381-7155

Student, Faculty of Pediatrics

Rússia

Bibliografia

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