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. Nineteen Tunisian patients with ADPKD, among 4 familial cases and 11 sporadic cases, and 50 Healthy individuals were included in this cohort. Genetic studies of PKD1/2 were carried on using Sanger sequencing and MLPA. In our study, the mean age at diagnosis was 47 ± 18 years. In addition, 84.21% of cases present a family history of ADPKD. Overall, 57.89% of the affected individuals had HTA and 26.31% patients had hematuria. 15.78 % of the patient has extra-renal cysts i.e. one patient with splenic cysts and two patients had liver cysts. 57.89 % of patients were diagnosed with various extra-renal clinical presentations i.e. myopia, hernia, deafness, intracranial aneurysm, respiratory distress, hyperthyroidism, urinary tract infection and lower back pains. The PKD1 genotype showed earlier onset of ESRD compared to PKD2 genotype (43 vs. 55 years old). Six mutations have been detected in PKD1 gene. Among them, three were novels e.g. c.688 T>G, p.C230G and c.690C>G, p.C230W among exon 5 and c.8522A>G, p.N2841S among exon 23. In addition, thirteen single nucleotides polymorphisms have been reported in PKD1 gene. Among them, eleven previously reported in heterozygous state and two novel single nucleotides polymorphisms in heterozygous and homozygous state and predicted to be probable polymorphisms by computational tools: c.496C>T, p.L166= among the exon 4, and c.10165G>C and p.E3389Gln among the exon 31. Only three single nucleotides polymorphisms previously reported in ADPKD database have been identified in PKD2 gene. The description and analysis of our cohort can help in rapid and reliable diagnosis for early management of patients in Tunisia. Indeed, predictive genetic testing can facilitate donor evaluation and increase living related kidney transplantation.

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. METHODS: An analytical cross sectional study was conducted in Bizerte military garrison during the period 2015-2017. The study population was the active military persons who were presents during the time of the survey and assigned at the three main navy, air force and army units of Bizerte garrison. The adopted definition for the diagnosis of MetS was the International Diabetes Federation 2005 (IDF 2005). Multivariate analysis using a binary logistic regression model to identify independent factors to MetS (variable of interest) was performed. Data entry and analysis were performed using SPSS 20.0 Software. RESULTS: During the study period, 2500 active military were enrolled among them 2418 men. The mean age was 36.6 ± 9.1 years [20.0 - 59.0]. The prevalence of MetS was 17.7%. MetS was significantly higher among participants aged 40 and above, (23.8% vs 13.1%), single (21.6% vs 13.7%), diabetic (38.5% vs 15.5%), and assigned in the air force (23.1% vs 14.6%) compared to the rest of the study population. The independent factors identified in multivariate analysis were age, armed forces' affiliation and marital status. CONCLUSION: The prevalence of MetS in our military population was relatively high despite of the medical criteria imposed before incorporation. Population and targeted approach are needed to prevent this scourge and to protect from the complications.

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. It is particularly frequent among Sephardic Jews, Armenians, Turks and Middle Eastern Arabs, where the prevalence can reach 1/2000 to 1/1000. Recent publications described its frequent association with other diseases and/or syndromes, particularly those of autoimmune, genetic, and autoinflammatory origin. The objective of this review is to familiarize healthcare professionals with the main associations to look for in patients followed for FMF. The early detection of these associations makes it possible to improve the management and the prognosis of patients with FMF.

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. Eighteen patients were diagnosed based on renal ultrasonography and renal/extra-renal manifestations. Then, Sanger sequencing was performed for PKD1 and PKD2 genes. Multiplex Ligation dependent Probe Amplification method (MLPA) methods was performed for both PKD genes. Mutational analysis of the PKD2 gene revealed the absence of variants and no deletions or duplications of both PKD genes were detected. But three novels mutations i.e. p.S463C exon 7; c. c.11156+2T>C IVS38 and c.8161-1G>A IVS22 and two previously reported c.1522T>C exon 7 and c.412C>T exon 4 mutations in the PKD1 gene were detected. Bioinformatics tools predicted that the novel variants have a pathogenic effects on splicing machinery, pre-mRNA secondary structure and stability and protein stability. Our results highlighted molecular features of Tunisian patients with ADPKD and revealed novel variations that can be utilized in clinical diagnosis and in the evaluation of living kidney donor. To the best of our knowledge, this is the first report of Autosomal Polycystic Kidney Disease in Tunisia.

[Ischemic colitis as a first sign of primary antiphospholipid antibody syndrome. A case report]. / Colite ischémique révélant un syndrome des anti-phospholipides primitif. A propos d'un cas.

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. CASE REPORT: We bring back one observations of ischemic colitis complicated of perforation revealing a primitif antiphospholpid antibody syndrome at a male patient aged of 45 and requiring the surgical intervention. CONCLUSION: This observation recall an exceptional étiology but often unrecognized of ischemic colitises.