8 results on '"Abderrahim, E."'
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2. TAFRO et syndrome et Sjögren : une association originale !
- Author
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Sirine, S., primary, Asma, K., additional, Fatima, J., additional, Ben Abdelghani, K., additional, Sassi, C., additional, El Euch, M., additional, Sami, T., additional, and Abderrahim, E., additional
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- 2024
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3. Genetic study of Alport syndrome in Tunisia.
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Younsi ME, Achour A, Kraoua L, Nesrine M, Sayari T, Abderrahim E, Laabidi J, Zouaghi MK, Kharrat M, Gargah T, Trabelsi M, and M'rad R
- Abstract
Background: Alport syndrome is a genetic disorder affecting the kidneys, ears, and eyes, causing chronic kidney disease, sensorineural hearing loss, and ocular abnormalities. It results from pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes, with different inheritance patterns: X-linked from COL4A5 variants, autosomal recessive from homozygous variants in COL4A3 or COL4A4, digenic from variants in both COL4A3 and COL4A4, and autosomal dominant from heterozygous variants in COL4A3 or COL4A4., Methods: We analyzed 45 patients with Alport syndrome from 11 Tunisian families to determine their clinical and genetic characteristics. Clinical data were collected retrospectively, and whole-exome sequencing was conducted on one patient from each family. Sanger sequencing validated pathogenic variants, and cascade screening extended the analysis to 53 individuals., Results: We identified nine likely pathogenic variants among 11 index cases: six novel and three known variations. Of these, five were in COL4A3, and four were in COL4A5, with variants including frameshift, nonsense, missense, and alternative splicing. Most variations affected the Gly-XY codon. Among the 45 clinically identified siblings, 30 tested positive for Alport syndrome. The cascade screening identified 3 additional affected individuals, 10 unaffected siblings, and 10 unaffected parents. The mode of inheritance was autosomal recessive in six families and X-linked in four families., Conclusions: This study is the first to screen the mutational spectrum of Alport syndrome in Tunisia. It reveals novel pathogenic variants and suggests that autosomal recessive inheritance may be more common in the Tunisian population than X-linked inheritance, contrary to existing literature., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
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- 2024
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4. A membranous nephropathy in a 5 year-old boy: and if that's not all? A nephrology quiz.
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Boussetta A, Jellouli M, Hajji M, Rekaya S, Ouederni M, Abderrahim E, and Gargah T
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- Humans, Male, Child, Preschool, Biopsy, Glomerulonephritis, Membranous diagnosis, Glomerulonephritis, Membranous pathology
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- 2024
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5. The Tunnelled Atrial Catheter: A Promising Solution for Vascular Capital Depletion in Dialysis despite Associated Thrombi.
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Hajji M, Saied S, Mami I, Khadhar Y, Ben Ayed T, Gorsane I, Ben Hamida F, Ziadi J, Zouaghi MK, and Abderrahim E
- Abstract
Introduction: Longer survival in dialysis led to a higher incidence of vascular access complications and failure. With the limited access to kidney transplantation programs and peritoneal dialysis, exhaustion of vascular access for hemodialysis is an increasingly common situation. Among the available options, atrial tunneled dialysis catheter (ATDC) has been reported as an effective vascular access in this population. Methodology . We report the experiences of two nephrology centers in Tunis with ATDC as an ultimate vascular access for dialysis. Case Reports . Two patients with exhausted vasculature underwent ATDC insertion in 2020 and 2022, respectively, as a vascular access of last resort. Both patients underwent CRBI, which resolved with favorable outcomes. One case was complicated by post-operative thrombosis and was successfully treated with thrombolysis. Both patients are currently on dialysis via their ATDC with a catheter patency of 29 months., Conclusion: ATDC is a life-saving and safe vascular access in cases of depleted vasculature. Little more than 50 cases have been reported in the literature during the last 30 years. As the frequency of vasculature exhaustion is expected to increase, preservation of veinous access in patients at risk of chronic kidney disease have never been more crucial., Competing Interests: The authors declare that there are no conflicts of interest., (Copyright © 2024 Meriam Hajji et al.)
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- 2024
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6. Recurrent Urolithiasis Revealing Primary Hyperparathyroidism in a Nephrology Department.
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Meriam H, Kaaroud H, Karray R, Ben Hamida F, Bouzid K, and Abderrahim E
- Abstract
Background: Urinary lithiasis constitutes a recurrent pathology affecting a relatively young population. The risk of progression to chronic renal failure and the cost of treatment are the most important issues. Primary hyperparathyroidism (PHPT) is responsible for urolithiasis and nephrocalcinosis in 7% of patients, and it represents the 7th cause of urolithiasis in Tunisia. Unfortunately, it remains an underdiagnosed pathology although it is curable. We aim to determine the clinical, biological, therapeutic, and evolutionary particularities of urinary lithiasis associated with PHPT in a nephrology setting., Methods: This is a monocentric, retrospective, descriptive study which took place in our nephrology department during the period from January 2010 to January 2023. Ten patients were included. All of them underwent blood and urine tests and a morphoconstitutional study of the urinary stones if possible., Results: The median age at diagnosis of PHPT was 42 years (34-54). The median time from the onset of kidney stones to the diagnosis of PHPT was 6.2 years (1-17). The male/female gender ratio was 0.66. Five patients had hypertension, two patients had obesity, one patient had diabetes, and three patients had urinary tract infections. Kidney stones were bilateral in eight cases and unilateral in two cases. Nine patients underwent urological intervention: surgery in 5 cases associated with nephrectomy in one case, extracorporeal lithotripsy in 4 cases, and percutaneous nephrolithotomy in two cases. The diagnosis of PHPT was retained with high or uncontrolled PTH associated with hypercalcemia in 8 cases and normocalcemic PHPT was found in 2 patients. Two patients had parathyroid adenoma and one patient had mediastinal adenoma. Radiology exploration was normal for the others patients. Surgery was performed in 7 patients and histology revealed an adenoma in 5 cases and hyperplasia in one case. The predominant urinary risk factors in our study were hypercalciuria in 6 cases and insufficient diuresis in 4 cases., Conclusion: This study underlines the role of the nephrologist in the exploration of urinary lithiasis and the prevention of recurrences, especially as PHPT is a curable aetiology of urolithiasis and affects a relatively young population. The determination of the epidemiological profile of patients with stones associated with primary PHPT and lithogenic risk factors allows the primary and secondary prevention of stone formation., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Hajji Meriam et al.)
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- 2024
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7. An exceptional cause of polyuria-polydipsia syndrome in a 10-year-old boy.
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Boussetta A, Jellouli M, Hajji M, Abderrahim E, and Gargah T
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- Child, Humans, Male, Polydipsia diagnosis, Polydipsia etiology, Polyuria diagnosis, Polyuria etiology, Autoimmune Diseases, Diabetes Insipidus complications, Diabetes Insipidus diagnosis, Sjogren's Syndrome diagnosis
- Abstract
Polyuria-polydipsia syndrome is a frequent symptom in pediatrics, primarily attributed to diabetes mellitus. In the context of diabetes insipidus, this syndrome can stem from central or nephrogenic factors. Sjögren's syndrome, an uncommon autoimmune disease in children, can affect multiple organs. Kidney involvement as described in adults is usually related to glomerular or tubular impairment, often linked to distal tubular acidosis. As a kidney involvement during childhood, Sjögren's syndrome has rarely been reported. Hereby, we present the case of Sjögren's syndrome revealed by polyuria-polydipsia syndrome in a 10-year-old boy., (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)
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- 2024
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8. Predictive Factors of Renal Graft Failure in Tunisian Children and young adults: A Retrospective Study.
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Boussetta A, Jellouli M, Gargah T, Hajji M, Hedri H, and Abderrahim E
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- Humans, Child, Young Adult, Adult, Retrospective Studies, Quality of Life, Immunosuppressive Agents therapeutic use, Tacrolimus, Mycophenolic Acid, Kidney Diseases, Kidney Failure, Chronic epidemiology, Kidney Failure, Chronic surgery
- Abstract
Introduction: Pediatric end-stage renal disease is a rare but severe condition that causes numerous complications and impairs the quality of life of children. Kidney transplantation is the therapy of choice in pediatric end-stage renal disease., Aim: Our study aimed to identify the predictive factors of renal graft failure after kidney transplantation in Tunisian children and young adults., Methods: We conducted a retrospective bicentric study of children and young adults (age≤20 years) who had undergone renal transplantation between 1989 and 2019 in Tunisia. We analyzed long-term survival rates and complications after pediatric kidney transplantation and searched for predictive parameters for graft dysfunction. We used a univariate and a multivariate analysis to identify predictive factors of graft survival., Results: A total of 112 patients underwent 115 kidney transplantations. Graft failure occurred in 30% of the cases. The overall 1-, 3-, 5- and 10-year graft survival rates were 92%, 89.1%, 85.9% and 74.5% respectively. The following parameters strongly influenced graft survival: immunosuppressive regimen including an association other than Mycophenolate mofetil- tacrolimus and corticosteroids (p=0.002), year of transplant (p<0.0001 for 1987-2000), deceased donor (p = 0.039), underlying etiology of end-stage renal disease (p=0.045), occurrence of acute or chronic rejection (p<0.001), a urine protein greater than 0.3 g/l per day (p=0.002), post-transplant urologic complications (p=0.002), five-year creatinine level>1.28 mg/dl (p<0.001). The overall 1-, 3-, 5- and 10-year patients survival rates were 97%, 95%, 90.2% and 84.4% respectively., Conclusions: Our study identified several predictive factors of graft failure in Tunisian children and young adults undergoing renal transplantation.
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- 2024
- Full Text
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