Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.

A high prevalence of genetic kidney disease in Tunisia has been detected, and their study provides very important clinical and genetic information. Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of morbidity and mortality associated with the kidneys in Tunisia. We present here clinical and genetic characteristics of a cohort of Tunisian patients with ADPKD.

Determinants of metabolic syndrome: a population survey at Bizerte military garrison in 2015-2017.

Introduction: Metabolic syndrome (MetS) is a worldwide major public health problem. In Tunisia, few studies have focused on MetS in general population and in military setting in particular.

Aim: To determine the prevalence of the MetS in a military population at Bizerte garrison (Tunisia) and to identify its associated factors.

Familial Mediterranean fever: What associations to screen for?

Familial Mediterranean fever (FMF) is the most common and best known of hereditary recurrent fever or periodic fever syndromes. It was described in 1945 and genetically characterized in 1992. It is caused by a point mutation in the MEFV gene located on the short arm of chromosome 16.

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most frequent genetic disorder of the kidneys, is characterized by a typical presenting symptoms include cysts development in different organs and a non-cysts manifestations. ADPKD is caused by mutations in PKD1 or PKD2 genes. In this study, we aimed to search for molecular causative defects among PKD1 and PKD2 genes.

[Ischemic colitis as a first sign of primary antiphospholipid antibody syndrome. A case report].

Background: The primitif antiphospholpid antibody syndrome is a clinico-biologic entity characterized by the artério-venous thromboses and the presence of circulating antibodies against membranous phospholipids. The systemic demonstrations and in particular ulcerated and ischemic colitises are brought back unusually during this affection.

Aim: Report a new case.