Byler's disease: conservative and surgical treatment strategies
DOI:
https://doi.org/10.15574/PS.2024.3(84).117123Keywords:
Byler's disease, Byler's syndrome, children, liver transplantation, chronic cholestasisAbstract
Byler's disease (BD) is rare and difficult for diagnosing hereditary cholestatic liver disease. Proper diagnosis, early correction and treatment (including liver transplantation (LT)) improves the quality of life (QoL), prevents irreversible liver changes, multiple organ failure and death.
Aim - to study the features of differential diagnostics, feasibility, terms, strategies, methods of conservative treatment, surgical correction (palliative surgery (PS), LT) in five children with BD.
Materials and methods. Five clinical episodes of chronic disease with data on hematological indicators during treatment, physical development (PD) (harmony, body mass index - BMI), neuropsychiatric development (NPD), QoL before treatment, after PS, after LT.
Results. Five clinical episodes of chronic disease were analyzed, one of which was fatal. All indicators (hematological, FD, NPD, QoL) improved after PS, but completely normalized after LT.
Conclusions. Differential diagnosis of severe hereditary rare disease progressive familial intrahepatic cholestasis (BD) is possible using genetic research methods as a marker of this disease among all cholestatic diseases in young children. The first clinical signs of the disease appear in the neonatal period and progress in the first months of life. Early modern diagnosis and diversion of bile prevent liver damage and death. Palliative surgical intervention is performed in the case of rapid progression of cirrhosis and the threat of liver failure as a temporary measure to better prepare the patient for transplantation and obtain the results of genetic analysis, carry out the necessary vaccinations and correct concomitant congenital and acquired diseases, improve PD, NPD, QoL, biochemical indicators, ultrasound data. LT is an effective method of radical treatment of BD, normalization of FD, NPD, QoL, biochemical and sonographic indicators.
The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the child and child's parents was obtained for the research.
The author declares no conflict of interest.
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