Affiliation:
1. Omsk State Medical University
2. Regional Clinical Hospital
Abstract
Progressive familial intrahepatic cholestasis is a group of infrequent hereditary diseases caused by the defect in the transport of bile acids, leading to the rapid development of the liver’s cirrhosis. The infrequent occurrence of this pathology creates significant difficulties in the diagnostic search for the causes of intrahepatic cholestasis. The article demonstrates a clinical case of progressive familial intrahepatic cholestasis in a newborn child. We used the descriptive method of clinical-anamnestic and laboratory-instrumental data, obtained from the medical history of a full-term newborn who was treated in the perinatal center of the Regional Clinical Hospital (Omsk). Starting from the first days of life, signs of liver failure with a progressive increase drew: indirect hyperbilirubinemia followed by predominance of direct bilirubin, hemorrhagic syndrome with signs of disturbance of both external and internal hemostasis pathways, and hypoproteinemia. At the second stage of nursing, monitoring was carried out laboratory and instrumental studies and using results we excluded the surgical and infectious nature of the pathology: hepatitis B and C, cytomegalovirus infection. In a diagnostic searching we were looking for the most common genetically determined liver diseases. Using massive parallel sequencing for mutations in 47 genes which have the hereditary nature of liver damage, we excluded tyrosinemia, galactosemia, Gaucher’s disease, and alpha-1-antitrypsin deficiency. According to the results of a liver biopsy performed at the clinic of the federal center of the St Petersburg State Pediatric Medical University detected progressive familial intrahepatic cholestasis (Byler’s disease). This case belongs to the category of orphan diseases with a complex diagnostic search, has a familial nature of inheritance (patient’s brother dead due to certain hereditary liver’s disease) and requires molecular genetic confirmation.