The Role of Liver Function Tests in Monitoring the effect of Enzyme Replacement Therapy in Children with Gaucher Disease

Background: Gaucher disease (GD) is an autosomal recessive hereditary disease. The etiology, pathophysiology, diagnosis, and prognosis of GD in children might all be affected by a variety of biomarkers. The majority of them are linked to abnormalities caused by this lysosomal storage disorder, which is caused by a deficiency of the glucocerebrosidase enzyme that affects numerous organs including the liver, spleen, and bones. Objectives: to investigate the relevance of liver function tests in the assessment of treatment response in children with Gaucher's disease who are undergoing enzyme replacement therapy in a follow-up manner. Methods: A case-control study was performed on 67 children (girls and boys) with GD who were recruited from the Children Welfare Hospital Consultation Clinic, the Gastroenterology and Hepatology Teaching Hospital, and the Central Child's Teaching Hospital. The levels of ALT, AST, total bilirubin (TB), and total protein (TP) were assessed in the samples of 67 Gaucher children, who were classified as recently diagnosed untreated patients (n=9), patients who received ERT for 3-6 months (n=18), 6-12 months (n=20), and patients who received ERT for more than one year (n=20), and compared to twenty newly comparable age-matched controls. The practical part of the study was conducted at research laboratories in the College of Pharmacy, Al-Maaql University and the Department of Pharmacy, Al-Turath University College during the period from December 2020 to March 2021. Results: The results showed that total protein levels in patients were significantly lower than in age-matched control group. The negative significant correlations between the levels of AST, ALT, and TB with the period of receiving treatment and the positive significant correlations between the levels of total protein and the period of receiving treatment indicated that the studied parameters were significantly associated with the period of receiving ERT. The effect of ERT was also indicated by the results of the ANOVA test, which revealed significant variations in the levels of ALT, AST, total bilirubin, and total protein across the patient subgroups. Conclusions: ALT, AST, total bilirubin, and total protein have been shown to have diagnostic significance in newly diagnosed untreated children with a wide range of treatment responses, limiting their utility in treatment monitoring.