Faculty of Medicine and Surgery
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Item Causes of end stage renal failure among haemodialysis patients in Khartoum State/Sudan(2015) Banaga,Amin S. I; Mohammed,Elaf B; Siddig,Rania M; Salama,Diana E; Elbashir,Sara B; Khojali,Mohamed O; Babiker,Rasha A; Elmusharaf,Khalifa; Homeida,Mamoun MBackground: End stage renal failure (ESRF) has become a major health problem in Sub Saharan Africa (SSA). There were limited data about causes of ESRF in the Sudan. Methods: This is a cross sectional hospital based descriptive study. The subjects of the study are ESRF adults’ patients on regular haemodialysis treatment in 15 haemdoialysis centres in Khartoum State—Sudan. Clinical and epidemio- logical data were obtained from 1583 patients. The medical files of each patient were reviewed to identify the cause of ESRF. Concerning the causes of ESRF, diabetes was diagnosed based on the past medical history and result of the glucose tolerance test, hypertension was diagnosed based on past history of hypertension based on blood pressure of more than 140/90 mmHg, glomerulonephritis was diagnosed based on results of previous kidney biopsies and on clinical grounds, polycystic kidney disease and obstructive uropathy were diagnosed based on abdominal ultrasound and other imaging modalities, sickle cell anaemia was diagnosed based on the result of haemoglobin electrophoresis, systemic lupus erythematosus was diagnosed based on the clinical criteria in addition to lab results of auto antibod- ies, and analgesic nephropathy was diagnosed based on past medical history of chronic analgesic drugs usage with no other identifiable risk factors. We included all ESRF patients on regular haemodialysis treatment. We excluded ESRF patients less than 18 years old. Results: The results showed that the mean age of ESRF Patients was 49 ± 15.8 (years) and 63.4 % were male and 76.3 % were unemployed. The mean duration of haemodialysis is 4.38 ± 4.24 (years). The most common cause of ESRF in our patients was hypertension (34.6 %) followed by chronic glomerulonephritis (17.6 %), diabetes mellitus (12.8 %), obstructive uropathy (9.6 %), autosomal dominant poly cystic kidney disease (ADPKD) (4.7 %), chronic pyelonephritis (4.6 %), analgesic nephropathy (3.5 %). However in (10.7 %) no cause was found. In patient aged less than 40 years old the leading cause of ESRF was glomerulonephritis (29.3 %) followed by hypertension (25 %). In patient aged between 40 to 60 years old the leading cause of ESRF was hypertension (38.5 %) followed by diabetes mellitus (14 %). In patient aged older than 60 years the leading cause of ESRF was hypertension (38.4 %) followed by diabetes mellitus (23.3 %). Conclusions: ESRF in Sudan affects the economically productive age group; unemployment rate among ESRF patients is high. The study showed that hypertension is a leading cause of ESRF in Sudan followed by chronic glomer- ulonephritis. Hypertension and diabetes mellitus are the leading causes of ESRF among patients over 40 years old.Item Why Did Sudanese End Stage Renal Failure Patients Refuse Renal Transplantation?(Open Journal of Nephrology, 2015) Banaga,Amin S; Mohammed,Elaf B; Siddig,Rania M; Salama,Diana E; Elbashir,Sara B; Khojali,Mohamed O; Babiker,Rasha A; Elmusharaf,Khalifa; Homeida,Mamoun MRenal transplantation remains the most effective treatment of End Stage Renal Failure (ESRF). In this cross sectional study we explore the reasons behind refusal of renal transplantation among adults’ Sudanese haemodialysis patients. The subjects of the study are ESRF adults’ patients on regular haemodialysis treatment in 15 haemdoialysis centres in Khartoum/Sudan. All patients who are on regular haemodialysis were interviewed by questionnaire to explore the reasons of refusal of renal transplantation. A total of 1583 ESRF adults’ patients on regular haemodialysis have been participated in the study, 381 (24.1%) patients refused kidney transplantation. The mean age of patients refusing kidney transplantation was (58.5 + 15.1 years); 77.4% of them were ≥50 years old, 59.2% were males and 88.1% were unemployed, patients older than 50 years old and unemployed are tend to refuse renal transplantation (P < 0.001). The main reason of refusal was that the patients refuse to accept kidney from living donors (34.8%). 17.6% of patients de- cline kidney transplantation because of financial reason, 18.1% of patients refused to do trans- plantation because of fear of transplant surgery, 15.7% of patients believe that kidney transplan- tation is against their religious values, 11.9% of patients refused transplantation because they don’t have enough knowledge on renal transplantation, only 0.5% of patients refuse transplanta- tion because of side effect of immunosuppressive drugs. In conclusion, in this study we found that elderly and unemployed ESRF patients tend to refuse renal transplantation, the most important reason behind refusal of renal transplantation is refusal of accepting kidney donation from living related donors. This reflects the need for development of cadaveric donors program in the Sudan. ESRF patients need education and counseling on renal transplantation.Item Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family(BMC Medical Genetics, 2018) Elsayed,Liena E. O; Mohammed,Inaam N; Hamed,Ahlam A. A; Elseed,Maha A; Salih,Mustafa A. M; Yahia,Ashraf; Siddig,Rayan A; Amin,Mutaz; Koko,Mahmoud; Elbashir,Mustafa I; Ibrahim,Muntaser E; Brice,Alexis; Ahmed,Ammar E; Stevanin,GiovanniBackground: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. Case presentation: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia. Brain MRI showed bilateral and symmetrical T2/FLAIR hyperintense signal changes in periventricular areas and basal ganglia and mild cerebellar atrophy. Whole exome sequencing with confirmatory Sanger sequencing were performed for the two patients and healthy family members. A novel variant (NM_003560.2 c.1427 + 2 T > C) acting on a splice donor site and predicted to lead to skipping of exon 10 was found in PLA2G6. It was found in a homozygous state in the two patients and homozygous reference or heterozygous in five healthy family members. Conclusion: This variant has one very strong (loss of function mutation) and three supporting evidences for its pathogenicity (segregation with the disease, multiple computational evidence and specific patients’ phenotype). Therefore this variant can be currently annotated as “pathogenic”. This is the first study to report mutations in PLA2G6 gene in patients from Sudan.