WORLD JOURNAL OF ADVANCE
HEALTHCARE RESEARCH

*Dr. Ibrahim Asi Ali Al Sabawi, Dr. Abdulbari Abdulhaleem M. Al-Mashhadani, Dr. Israa Abdulfattah Hammoodi

ABSTRACT

Background: Fabry disease is an X-linked disorder causing lysosomal storage issues in males due to a deficiency in alpha-galactosidase A, causing inflammation and cellular necrosis. It affects endothelial cells and pericytes, primarily affecting males and heterozygous females. Aim: To determine the prevalence of Fabry disease among hemodialysis patients screened for Fabry disease in Mosul City. Patients and Methods: The study involved 93 patients with unknown end-stage kidney disease (ESKD) in Ibn-Sina Teaching Hospital and Al-Salam Hospital in Mosul, Iraq. Patients were measured for enzyme activity and lyso-Gl3 using a negative cutoff value. Genetic testing was conducted for all female patients and those with equivocal results in males. Positive results were defined as positive enzyme activity and lyso-Gl3 tests. Results: 36.6% of the 93 patients included were females and 63.4% were males. The average age of the male participants was 31.11 ± 16.79 years, whereas the average age of the female participants was 25.11 ± 16.90 years. P = 0.101 indicates that there was no statistically significant difference between the two groups. Just 4 patients tested positive for Fabry disease; all four of these patients were female. Of the 89 patients tested negative for the condition. The four individuals that tested positive were all female and had positive results for lyso-GL3, enzyme activity, and genetic research. Conclusion: Fabry disease affecting female patients undergoing maintenance hemodialysis in Mosul, is more prevalent in females than males, necessitating further research and a multidisciplinary approach for accurate diagnosis and treatment.

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