Benjamin, S. C.Assounga, A. G.Singh, Jillian2023-09-122023-09-122023-08https://hdl.handle.net/10321/4976Submitted in fulfilment of the academic requirements for the degree of Masters in Health Sciences, in the Department of Clinical Technology, Durban University of Technology, Durban, 2023.Fabry disease is characterized as a genetic, progressive, lysosomal storage disorder. It is inherited in an X-linked manner in which the mutated gene inhibits the functioning of the alpha-Galactosidase-A enzyme causing a deficiency or absence of the enzyme. This results in the accumulation of glycolipids, particularly globotriaosylceramide (Gb3) in the lysosomes causing progressive damage to tissues and major organs. Fabry nephropathy is progressive and is one of the major organ complications after cardiovascular manifestations caused by Fabry disease. Left untreated, Fabry nephropathy can result in end-stage kidney disease. To our knowledge, no research has been conducted to determine the association between Fabry disease, its clinical manifestations, and chronic kidney disease in KwaZulu-Natal. Methods: This study was a prospective, quantitative study. A total of 200 male patients with chronic kidney disease (CKD stage 2-5D) were enrolled in three dialysis clinics at Inkosi Albert Luthuli Central Hospital, Addington Hospital and St Aidan’s Hospital in KwaZulu-Natal. A control group of 14 healthy males was also enrolled for this study. The ELISA technique was employed to determine the alpha Gal-A enzyme concentration levels in the plasma. A questionnaire using the MSSI scoring system was presented to the participants to identify clinical manifestations. Results: A cut-off value for the alpha Gal-A enzyme concentration levels of <500pg/ml was calculated using the standard deviation and mean. A total of 17 participants from the patient group (n=11) and the control group (n=6) displayed alpha-Gal-A enzyme levels <500pg/ml. A p-value of <0.05 was considered to be statistically significant. A statistically significance result was exhibited between alpha-Gal levels of <500pg/ml and demographic parameters such as age (p=0.007), where the mean age was 30.5 years. Clinical parameters such as heat or cold intolerance, MSSI scores and hypertension also displayed significance. Heat and cold intolerance displayed a p-value of 0.049, where 2 patients reported the manifestation. MSSI scores displayed a negative association where p=0.001. Low MSSI scores should correlate with high alpha-Gal levels, however, in this study, all the patients displayed low MSSI scores between 9 and 12.5 with low alpha-Gal levels. Hypertension also presented with a significance of p<0.001. A total of 4 patients were diagnosed with hypertension. Conclusion: Fabry disease is suspected in a total of 17 participants with alpha-Gal levels of <500pg/ml. The cause of CKD nephropathy raises interest as conditions such as FSGS have been associated with FD. The low levels of the alpha-Gal enzyme and presentation of the clinical manifestations can be used as preliminary findings. It is recommended that confirmatory tests such as DNA analysis or Gb3 and GL3 analysis should be performed to confirm the diagnosis.181 penFabry diseaseChronic renal failurePatientsPublic hospitalsLysosomal storage diseasesChronic renal failure--PatrientsSymptomsPublic hospitals--South Africa--KwaZulu-NatalThesishttps://doi.org/10.51415/10321/4976