Dr. Sally Kamal

Citation:

Ishak, S. K. I., THE VALUE OF HUMAN GLUTATHIONE S-TRANSFERASES IN EARLY DETECTION OF CYSTIC FIBROSIS RELATED LIVER, , Cairo, Cairo University, 2012.

Thesis Type:

Abstract:

Objective: Cystic fibrosis (CF) is a genetic disease that typically produces symptoms of malnutrition and chronic respiratory infections and remains the most common life threatening autosomal recessive disorder in white population, with a frequency of about 1 in 2500 live births. For a long time, CF was thought to be a rarity among Arabs. Recently, case reports from several Arab countries have been published, sue. CF is caused by mutations in a single gene on the long arm of chromosome 7 encoding a protein called the CF transmembrane regulator (CFTR). The defect in CFTR leads to pathological changes in all organs with mucous secretory glands, e.g. airways, pancrease, gut, biliary tract, vas deferens and sweat glands. With increase life expectancy in patients with CF, liver manifestations complicating the clinical course of the disease have emerged as a significant medical issue and it is now considered the third leading cause of death in patients with CF. Besides improved survival, increased recognition of liver disease (LD) also has been fastened by substantial changes in follow up modalities our time, including more frequently resorting to laboratory determinations and ultrasonography. Children with CF are predisposed to liver disease because of the lack of a functional CFTR protein on the biliary epithelium. The characteristic hepatic histological lesion in CF is focal biliary fibrosis. It is probably due to the focal nature of the damage that the clinical signs arc few and overall hepatic function is preserved until the late stages. The prompt recognition of CF liver disease is now important because of the potential beneficial effects of treatment with ursodeoxycholic acid and the need to design trials of its prophylactic use.
Methods: In our study, we aimed to investigate the early evaluation of clinical, biochemical (mainly serum level of GST) and ultrasonographic features of liver disease in a group of children with CF and comparing them with 2 groups (hepatic group and controls). In a recent study as regard biochemical investigation, it was found that human glutathione- S- transferases (hGST) which are cytosolic detoxification enzyme accounting for about 3% of the cytoplasmic proteins in hepatocytes showed some rise indicating early liver damage. As regard ultrasonography, it was found that abnormal echogenicity was often found in the absence of biochemical and/or clinical disease. It was concluded that periodic ultrasonographic examination could be an early indicator of disease.
Results: As regard the serum level of GST enzyme (normal value about 2000-3000 U/L), the results revealed a highly significant difference between controls and (hepatic + CF) groups. As regard the ultrasongarphic changes among three groups, the results revealed a highly significant difference between controls and Hepatic + CF) groups. From these results we can confirm that GST is a sensitive value in early detection of liver affection in general with no specificity to CF patients.
Conclusion: serum GST with US scan of liver seem to be sensitive markers than transaminases for detection of liver affection in general with no specificity to CF patients, so we can use both of them to detect early liver affection in general included CFLD.