THE EFFECT OF THE ENZYME REPLACEMENT THERAPY ON THE KIDNEY FUNCTION TESTS AND SERUM ELECTROLYTE LEVELS IN CHILDREN WITH GAUCHER DISEASE

Abstract

Background: Gaucher disease (GD) is an inherited autosomal recessive disease. It is most common in the Ashkenazi Jewish population. Many biomarkers might be involved in the etiology, pathogenesis, diagnosis and prognosis of GD in children. Most of them are related to complications due to an involvement of many organs such as liver, spleen and bones by this lysosomal storage disease that caused by a lack of the enzyme glucocerebrosidase. Objective: To investigate the role of kidney function test and electrolytes (urea, creatinine, sodium and potassium) level in the monitoring of the response for the treatment used for patients with GD in follow-up manner. Methods: A case control study was done on 67 children (32 males & 35 females), age range from 2-14 years (mean±SD; 5.3±2.9). The levels of sodium, potassium, urea and creatinine were measured in the samples of patients who were categorized as newly diagnosed untreated patients (n=9), patients receiving enzyme replacement therapy (ERT) for 3-6 months (n=18), 6-12 months (n=20) and patients receiving ERT for more than one year (n=20) and compared with twenty age-matched control subjects (9 males & 11 females) age range from 2-14 years (mean±SD; 5.55±3.05). Results: The data indicated that the level of urea in GD patients (23.39±4.71 mg/dl) was significantly higher than that of age-matched controls (17.5±3.05 mg/dl). Non-significant differences were illustrated in the levels of sodium, potassium and creatinine. Negative significant (p<0.05) correlations were obtained between the levels of urea (r= -0.752; p<0.001) and creatinine (r= -0.536; p<0.001) with the period of receiving ERT. Additionally, ANOVA test also revealed significant (p<0.05) differences among the patients' subgroups in the levels of urea and creatinine. Results obtained from Receiver Operating Characteristic (ROC) curve revealed that urea and creatinine showed a high area under the curve (AUC), sensitivity and specificity (0.939, 77.8% and 85% for urea and 0.978, 100% and 80% for creatinine respectively) in newly diagnosed GD patients in a comparison with control. Conclusion: The possibility of using urea and creatinine in the diagnosis and monitoring the effect of ERT on the GD patients. Keywords: Gaucher disease, macrophage, renal function test, urea, creatinine, sodium, potassium, enzyme replacement therapy, imiglucerase, β-glucocerebrosidase, glucocerebroside Citation: Abdulhussein HA, Al-Obaidi FH, Arif HS. The effect of the enzyme replacement therapy on the kidney function tests and serum electrolyte levels in children with Gaucher disease. Iraqi JMS. 2018; 16(2): 182-190. doi: 10.22578/IJMS.16.2.10