A newborn infant born to a mother with the intrahepatic cholestatic disease should receive the highest-quality care possible. High levels of maternal bile acids harm the developing fetus, can affect respiratory function, and lead to fetal death.
PFIC is a condition in which the bile acid secretion from the liver is impaired. Usually, the bile acids are sent back to the liver through enterohepatic circulation, but this process can be interrupted in patients with PFIC. This condition typically develops in childhood and can result in severe liver damage and problems absorption of essential vitamins. Eventually, it may lead to liver failure, requiring surgical intervention and liver transplantation. This systematic review summarizes the current knowledge of PFIC and its risk factors. The study population consisted of various patients with PFIC, with varying presentation and subtypes. For instance, the proportion of males varies from 32 to 77% (although this is likely due to the small sample size). In addition, the average age at presentation ranged from newborn to 17 years, reflecting the different phenotypes of PFIC and BRIC. BRIC is a rare genetic disease that affects the liver. Patients with this condition are usually affected by an inherited genetic defect that causes an abnormal bile secretion. There are two known BRIC genes: ABCB11 and ATP8B1. Both genes encode a bile salt export pump. Patients with ABCB11 mutations are more likely to develop intrahepatic cholestasis. A diagnosis of BRIC is made based on clinical history, serum biochemistry, and liver structure and function. In patients with BRIC2, BSEP staining is reduced or absent. Occasionally, BRIC progresses to PFIC, a more severe form of the disease. Although the benefits of LDLT for children with intrahepatic cholestatic hepatitis are still debated, this procedure is increasingly being performed to improve patient outcomes and reduce the number of patients on the transplant waiting list. The procedure has several advantages over deceased donor liver transplants. In addition to being safer and more effective, this type of transplant uses a healthy donor organ, reduces the time between donor and recipient surgery, and can be scheduled electively. The first LDLT was performed on a child with biliary atresia in 1988. The operation involves the removal of the left lateral segment and a portal vein branch from the patient's liver. Then, the graft is anastomosed to the recipient's central portal vein and IVC. Citrin deficiency is the cause of neonatal intrahepatic cholestasis disease (NICCD), which is characterized by high levels of AFP and transaminases in the liver. Although the phenotype of NICCD is unclear, it has been associated with hepatic inflammation and persistently elevated AFP levels. In the present study, thirty liver biopsy specimens from genetically diagnosed NICCD patients were histologically evaluated and classified according to the Inuyama Classification. Citrin deficiency in intrahepatic is an autosomal recessive metabolic disorder with two phenotypes: neonatal and adult. Neonate intrahepatic cholestasis caused by citrin deficiency is characterized by prolonged cholestasis, aminoacidemia, and galactosis. In newborns, neonatal intrahepatic cholestasis usually resolves within a year. The role of HNF in cholestatic disease is not fully understood, but it is suspected that HNF may be involved in this disease. HNF is a gene that regulates the development of the biliary tract. HNF1b deficiency is associated with biliary duct malformations. Different defects of this gene cause different stages of biliary morphogenesis. The clinical symptoms of cholestasis in neonates include jaundice, pruritus, and failure to thrive. Other symptoms include hypoechoic stools. If a neonate develops cholestasis, it is essential to perform a full workup. The disease may be due to anatomic biliary obstruction. The timing of surgical intervention may affect the outcome of the condition. TGF-b1 is one of the essential fibrogenic cytokines in the liver. It is also believed to play a role in hepatic fibrosis in children with fibrotic liver diseases. Although further studies are needed to confirm the association, our current data suggest that it may be involved in the pathogenesis of hepatic fibrosis. Although the extrahepatic biliary tree and the intrahepatic biliary tree have distinct endodermal origins, common pathways and molecular forces direct the development of each of these tissues. In addition, genetic studies in mice expressing inactivated TGF or other gene products show phenotypic changes. NR intrahepatic cholestasis is when the liver does not correctly process bile acids. It may be present at birth or develop during the first six months of life. Its symptoms are similar to those of cholestasis in adults. Some cases may be associated with biliary atresia or cardiac lesions. Genetic studies have identified several genes that contribute to cholestasis in children. Recent work suggests that these genes may be involved in pathogenesis. Therefore, inactivating them may provide new clues to the pathophysiology of the disease. Further, this could help in the development of new therapeutic agents.
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