Dorsaf Zellama

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BACKGROUND Primary hyperoxaluria type I (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze the prevalence of these specific mutations causing PH1, and(More)
INTRODUCTION A desmoid tumour is a rare fibroblastic tumour and generally located in the abdomen. However, it can also develop on surgical scars. OBSERVATION A 36 year-old woman on chronic dialysis consulted for a cervical mass on the left side that was progressively increasing in volume, on the site of a scar of an internal jugular catheter placed 7(More)
Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of(More)
We report a case of a 41-year-old woman with refractory high blood pressure sustained by an unexpected combination of a pheochromocytoma (PCC) and reflux nephropathy. This case prompted us to seek a molecular explanation for this unusual association of VUR and a PCC, as they are derived from distinct embryonic tissues. Both entities can be caused by over(More)
Background: Decline of Residual renal function (RRF) is commonly observed in dialysis patients. RRF may play a significant role in the treatment adequacy and outcomes of dialysis patients. Several prospective observational and interventional studies have shown that the presence of RRF was associated with an improved outcome and a reduced mortality in(More)
BACKGROUND Hyperhomocysteinaemia, an independent risk factor for cardiovascular diseases, is common in hemodialysis patients (HD) and particularly in those homozygous for polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. B vitamins supplementation has been shown to lower plasma total homocysteine (tHcy), but this has been(More)
Fungal peritonitis is a serious complication of peritoneal dialysis (PD) leading to loss of ultrafiltration and discontinuation of PD treatment. The most frequently isolated fungi are Candida albicans and, filamentous fungi such Alternaria alternata species are found only rarely. We report the case of a 75-year-old woman who developed peritonitis due to(More)
BACKGROUND Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. METHODS Common(More)
Boutonneuse fever is a bacterial infection caused by Rickettsia conorii. It occurs mainly in countries around the Mediterranean basin. Most cases are benign. However severe forms with major morbidity and a high mortality risk have been described. Severe forms often involve altered mental status, hepatic cytolysis, hemostatic disturbances, pneumopathy, and(More)
Primary hyperoxaluria type 1 is a rare autosomal recessive inborn error based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGXT). Some mutations arevery rarely described in the adult patients as the 33-34InsC mutation, known as responsible for a terrible severe clinical feature that(More)