Publications by authors named "Ezzeddine Abderrahim"

Article Synopsis
  • - Alport syndrome is a genetic disorder impacting the kidneys, ears, and eyes, caused by mutations in specific COL4A genes, with varying inheritance patterns including X-linked and autosomal recessive.
  • - A study involving 45 patients from Tunisian families revealed 9 likely pathogenic variants, including 6 new ones, mostly in COL4A3 and COL4A5, and confirmed that many siblings tested positive for the condition.
  • - The findings indicate that autosomal recessive inheritance may be more prevalent in Tunisia than previously thought, marking the first comprehensive screening of Alport syndrome mutations in the region.
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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.

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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.

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Introduction: Sarcoidosis is a systemic granulomatosis that can be associated with large-scale physical and mental disability, affecting the health related quality-of-life (HRQoL) of patients.

Aim: To evaluate the HRQoL of tunisian patients with sarcoidosis and to identify the factors that influence it.

Methods: We conducted an analytical, cross-sectional study collecting 31 patients with sarcoidosis according to the ATS/ERS/WASOG criteria.

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Article Synopsis
  • Tacrolimus shows variability in how it works in different individuals and has a small window between effective and harmful doses, with ongoing debate about the effect of a specific genetic variant (CYP3A5 6986A>G) on this variability.
  • A study on Tunisian kidney transplant recipients examined the effects of this SNP on tacrolimus levels, adverse drug reactions (ADRs), and kidney graft outcomes over five years.
  • Results indicated that patients with the CYP3A5*3 variant had higher tacrolimus concentrations and more ADRs, but this genetic variant did not affect the success of the kidney transplant.
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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.

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Introduction: Hemophagocytic lymphohistiocytosis (HLH) is a disease of multi-organ dysfunction due to excessive immune activation causing widespread inflammation and tissue destruction. It is a severe condition associated with high morbidity and mortality. Early identification is crucial for prompt treatment.

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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.

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Introduction: Primary hyperoxaluria type 1 (PH1) is a rare and inherited condition of urolithiasis. The aim of our study was to analyze clinical, paraclinical, and evolutionary aspects of PH1 in adult patients in our Nephrology department.

Methods: We conducted a retrospective single-center study between 1990 and 2021.

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Dent's disease is a rare genetic kidney disorder characterized by proximal tubular dysfunction, nephrocalcinosis, recurrent nephrolithiasis, and chronic kidney disease. Hypercalcemia is a rare finding in this disease. In this report, we present a case of possible Dent's disease in a young adult male with hypercalcemia and chronic kidney disease.

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Background: Lupus nephritis and lupus erythematosus tumidus (LET) are uncommon manifestations of systemic lupus erythematosus (SLE), and their coexistence as the initial presentation of SLE is exceedingly rare. Here, we report such a case, emphasizing the diagnostic challenges and therapeutic implications of this unusual association.

Case Report: A 38-year-old North African woman presented in Nephrology department with a history of lower extremity edema, fatigue, and weight loss of 3 kg in 4 weeks.

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Multiple myeloma (MM) results from malignant plasma cell disorder. It represents approximately 10% of hematological malignancies and it is typically diagnosed in the elderly with a median age of 70 years and has a steep increase in incidence with advancing age. N Engl J Med.

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Tuberculous tenosynovitis of the hand is a very rare condition. Herein, we report the case of tuberculous tenosynovitis of the hand in a 32-year-old woman. We highlight the success of anti tuberculosis drugs alone without resort to surgical treatment.

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Introduction: Urinary lithiasis is a very common condition. The morpho-constitutional analysis of urinary stones is important for etiological diagnosis. It guides the explorations and the specific management.

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Introduction: antineutrophil cytoplasmic antibodies (ANCA) associated Glomerulonephritis (GN) is rare but a life-threatening disease especially, particularly in patients with advanced renal failure at presentation. This study aims to evaluate the epidemiological, clinical and histopathological features of renal involvement and investigate factors associated with ESRD.

Methods: patients with renal biopsy-proven ANCA associated glomerulonephritis were included retrospectively over a thirty years period.

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Background: Renal amyloidosis is one of the main differential diagnoses of nephrotic proteinuria in adults and the elderly. The aim of this study with the most important series in our country is to contribute to the epidemiological, clinical, and etiological study of the renal amyloidosis.

Methods: In a retrospective study carried out between 1975 and 2019, 310 cases of histologically proven and typed renal amyloidosis were selected for this study.

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Among salt-wasting tubulopathies' complications, venous thrombosis is one of the rarest. We report a case of a young woman with Gitelman syndrome (GS). She presented a deep venous thrombosis in her leg and was treated with heparin with favorable outcomes.

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Background: Left ventricular hypertrophy is the most prevalent cardiac abnormality in hemodialysis patients. The diagnosis of this abnormality is possible by electrocardiogram and/or echocardiography. Our study aimed to assess the prevalence of left ventricular hypertrophy in hemodialysis patients and the accuracy of different electrocardiographic criteria.

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No significant morbidity from recurrence cancer and no development of secondary type of cancers in pre-existing malignancies. We must be careful about risk of rejection.

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Emphysematous pyelonephritis is a rare and severe infectious complication characterized by the presence of gas in the renal parenchyma, excretory cavities and surrounded tissues. It is due to the development of non-anaerobic gasifier bacteria. We report a new rare case of emphysematous pyelonephritis in a kidney transplant recipient, particular by its occurrence in a non-functional graft and its exceptional association with emphysematous cystitis.

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We report the observation of a patient who presented with post-transplant Kaposi's sarcoma after a delay of eight months with a dual cutaneous and palatal localisation. The reduction in immunosuppressive treatment and the introduction of Rapamune® allowed good clinical progress initially with regression of the skin lesions. He subsequently presented later a skin relapse with visceral localisation.

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Renal involvement is rare in systemic sarcoidosis. Among renal manifestations, tubulointerstitial nephritis (TIN) is the most commonly reported finding. We conducted the current study to investigate the clinical, laboratory, and histological features and to analyze the outcome of TIN due to sarcoidosis.

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