A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.

Tuberous sclerosis complex (TSC) syndrome is a neurocutaneous syndrome that affects the brain, skin, and kidneys that has an adverse impact on the patient's health and quality of life. There have been several recent advances that elucidate the genetic complex of this disorder that will help understand the basic neurobiology of this disorder. We report a Tunisian patient with clinical manifestations of TSC syndrome. We investigated the causative molecular defect in this patient using PCR followed by direct sequencing. Subsequently, in silico studies and mRNA analysis were performed to study the pathogenicity of the new variation found in the TSC2. Bioinformatics tools predicted that the novel mutation c.1444-2A>T have pathogenic effects on splicing machinery. RT-PCR followed by sequencing revealed that the mutation c.1444-2A>T generates two aberrant transcripts. The first, with exon 15 skipping, is responsible for the loss of 52 amino acids, which causes the production of an aberrant protein isoform. The second, with the inclusion of 122 nucleotides of intron 14, is responsible for the creation of new premature termination codons (TGA), which causes the production of a truncated TSC2 protein. This study highlighted the clinical features of a Tunisian patient with TSC syndrome and revealed a splicing mutation c.1444-2A>T within intron 14 of TSC2 gene, which is present for the first time using Sanger sequencing approach, as a disease-causing mutation in a Tunisian patient with TSC syndrome.

Optimization of therapeutic drug monitoring of vancomycin in patients with chronic hemodialysis
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PURPOSE: To validate a simplified vancomycin monitoring algorithm in patients on chronic hemodialysis who required intravenous vancomycin for at least 3 weeks. MATERIALS AND METHODS: In this prospective study, all hemodialysis patients who were admitted between April 1, 2013, and March 31, 2015, in our unit for suspected or confirmed methicillin-resistant Staphylococcus aureus infection that required vancomycin were enrolled. All patients were categorized into two groups. In group 1 (standard vancomycin dosing algorithm), the maintenance doses of vancomycin were adjusted according to the pre-hemodialysis vancomycin concentrations determined before each hemodialysis session. In group 2 (simplified vancomycin dosing algorithm), pre-dialysis vancomycin trough levels were taken before the 2nd and the 6th session of hemodialysis. Maintenance doses were adjusted according to the residual concentrations of vancomycin. RESULTS: A total of 101 blood samples were collected, the average plasma concentration of vancomycin was 13.1 ± 3.8 µg/mL. 64 (63.4%) levels fell out of the therapeutic range. Seven (6.9%) of these exceeded the therapeutic range and 30 (29.7%) were lower. After the loading dose, the average plasma concentration was 11.2 ± 3.4 µg/mL. There were no statistically significant differences between the two groups with respect to the average plasma concentration of vancomycin and the proportion of vancomycin trough levels in the target range. CONCLUSION: The vancomycin dosing algorithm using limited concentration monitoring for hemodialysis patients achieved drug concentrations comparable to those found with more frequent monitoring and resulted in significant cost savings.
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Diet in chronic kidney disease in a Mediterranean African country.

BACKGROUND: Mediterranean diet is characterized by low to moderate consumption of animal protein and high consumption of fruits, vegetables, bread, beans, nuts, seeds and other cereals. It has been associated with reduced risk of cardiovascular disease. However, it is not suitable for chronic kidney disease because of high potassium intake. DISCUSSION: Tunisia is an emerging Mediterranean country with limited resources, a high prevalence of chronic hemodialysis treatment and high dialysis expenditures. In order to limit dialysis cost, primary and secondary prevention of chronic renal disease are of paramount importance. In addition to drugs, secondary prevention includes diet measures (e.g. salt diet, protein diet). The aims of diet practice in chronic kidney disease are to slow chronic renal failure progression and to prevent its complications like hyperphosphatemia and hyperkaliemiae. A few decades ago, a Tunisian diet was exclusively Mediterranean, and protein consumption was not excessive. However, today, protein consumption is more comparable to western countries. Salt consumption is also excessive. Some Tunisian diets still include food with high potassium intake, which are not suitable for patients with chronic kidney disease. Therefore, the role of the dietician is extremely important to help calculate and create a dietary regimen tailored to each of our patients. Advice about diets should be adapted to both the patient and population habits to improve adherence rate. As such, the purpose of this article is to provide our own experience regarding medical nutrition therapy in patients with chronic kidney disease in Tunisia, with some changes in food habits. Prevention is far better than treatment. In this perspective, dietary measures must be at the core of our intervention.

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.

BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent renal failure if treatment is not initiated promptly. Mutations in the AGXT gene which encodes the hepatic peroxisomal enzyme alanine:glyoxylate aminotransferase are responsible of PH1. In the present work, we aimed to analyze AGXT gene and in silico investigations performed in four patients with PH1 among two non consanguineous families. METHODS: Exhaustive gene sequencing was performed after PCR amplification of coding exons and introns boundaries. Bioinformatic tools were used to predict the impact of AGXT variants on gene expression as well as on the protein structure and function. RESULTS: Direct sequencing of all exons of AGXT gene revealed the emergence of multiple mutations in compound heterozygous state in the two studied families. Two patients were compound heterozygous for the c.731 T > C, c.32C > T, c.1020A > G and c.33_34insC and presented clinically with recurrent urinary tract infection, multiple urolithiasis and nephrocalcinosis under the age of 1 year and a persistent hyperoxaluria at the age of diagnosis. The two other patients presenting a less severe phenotypes were heterozygous for c.731 T > C and homozygous for the c.32C > T and c.1020A > G or compound heterozygous for c.26C > A and c.65A > G variants. CONCLUSION: In Summary, we provided relevance regarding the compound heterozygous mutations in non consanguineous PH1 families with variable severity.

Quality of life in chronic hemodialysis patients:about 71 cases.

BACKGROUND: The chronic hemodialysis imposes various limitations on patients that may affect their quality of life. However, Tunisian studies on this matter remain scarce. AIMS: To assess the quality of life among hemodialysis patients and to identify the factors influencing their quality of life. METHODS: We performed a cross-sectional study which included 71 outpatients, during the month of January 2013, in the department of Nephrology at Hedi Chaker Sfax university hospital in Tunisia. We used the specific scale Kidney Disease Quality of Life Short-Form (KDQOL-SF™) to assess the patient's quality of life. This instrument combines the short form 36 health survey questionnaire (SF-36) and a specific module adapted to renal function. Regression analysis was used to adjust for confounding factors. RESULTS: The global average score, according to KDQOL-SF and the SF-36 were respectively 51.6 and 38.2. The QOL was impaired in 90% of the cases. The logistic regression identified six variables to be correlated with impaired QOL. These six factors in descending order of importance were:  lack of autonomy, a dialysis rhythm of thrice a week, an age over 60 years, a comorbid diabetes, low social economic level and living in rural areas. CONCLUSION: Our study highlights the high frequency of QOL impairment upon patients on hemodialysis underlining the interest of a systematic effort to assess the quality of life in those patients. It also shows the interest of acting upon modifiable factors correlated with the alteration of the quality of life. In this way, the professional integration of the patients should be favored as well as peritoneal dialysis.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated in familial forms of primary FSGS. We identified a homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS. Mutations in this ciliary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropathy. Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. We demonstrated that the TTC21B gene product IFT139, an intraflagellar transport-A component, mainly localizes at the base of the primary cilium in developing podocytes from human fetal tissue and in undifferentiated cultured podocytes. In contrast, in nonciliated adult podocytes and differentiated cultured cells, IFT139 relocalized along the extended microtubule network. We further showed that knockdown of IFT139 in podocytes leads to primary cilia defects, abnormal cell migration, and cytoskeleton alterations, which can be partially rescued by p.P209L overexpression, indicating its hypomorphic effect. Our results demonstrate the involvement of a ciliary gene in a glomerular disorder and point to a critical function of IFT139 in podocytes. Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages.

[Sexual disorder in hemodialysis patients]. / Troubles sexuels chez le patient Hémodialysé.

OBJECTIVES: To identify the sexual problems, to assess their prevalence and to determine the various factors involved in their occurrence in patients on hemodialysis for at least 6 months. PATIENTS AND METHODS: Fifty hemodialysis patients consulting in the dialysis unit of the nephrology department of the University Hospital Hedi Chaker of Sfax (Tunisia), during the period from 1 June to 30 August 2012, were included in this study, The Hospital Anxiety and Depression Scale (HADS) was used to evaluate anxiety and depression. The patients' quality of life was assessed by Kidney Disease Quality of Life ¼ (KDQoL). RESULTS: Patients' mean age was 51.2 years. The average of hemodialysis period was 6,73 years. After the beginning of hemodialysis, 26% of patients were sexually inactive and 62% reported a decrease of their sexual activity. The prevalence of sexual dysfunction was 86.48%. Mean age of 55 years or greater was significantly correlated with risk of sexual disorders. These disorders were also positively correlated with personal medical history, some nephropathy data, a hemodialysis period greater than or equal to 1 year, depression, anxiety and impaired quality of life. CONCLUSION: The prevalence of sexual dysfunction in hemodialysis patients is high and many factors were involved in their occurrence. A collaborative effort between nephrologists, psychiatrists and sexologists before dialysis, seems to be essential.

Risk factors for acute decompensation of chronic kidney disease in hospitalized patients in the nephrology department: a case-control study.

OBJECTIVE: To investigate risk factors for acute kidney injury (AKI) in hospitalized patients with chronic kidney disease (CKD) a case-control study was conducted in the Nephrology Department of Hedi Chaker University Hospital in Sfax, Tunisia, for a 1-year period. METHODS: All patients with baseline renal insufficiency hospitalized for AKI were considered as cases. They were compared with control patients with CKD. A conditional logistic regression model was used to identify independent risk factors for AKI in patients with CKD. RESULTS: A total of 58 cases were compared with 114 control subjects. In multivariable models, baseline diabetes, cardiopathy disease, and exposure to non-steroidal anti-inflammatory drugs were independent risk factors for AKI in patients with CKD. However, exposure to calcium channel blockers (CCBs) was associated with decreased risk for AKI on CKD (OR = 0.4; CI 95%: 0.2 - 0.8, p = 0.007). CONCLUSIONS: Patients with CKD may benefit from more aggressive cardiovascular screening to prevent episodes of acute kidney injury. More efforts should be made to prevent prescription drug abuse and to demonstrate the role of CCBs in renal protection in these patients.

[Depression in chronic hemodialysis patients: report of 106 cases]. / La depression chez les malades hemodialyses chroniques: a propos de 106 cas.

BACKGROUND: Depression is the most common psychiatric disorder in chronic hemodialysis patients and is associated with mortality. AIM: To evaluate the prevalence of the depression in patients undergoing chronic hemodialysis, and to identify the correlated factors. METHODS: The study population included 106 patients on chronic hemodialysis. The Hospital-Anxiety and Depression Scale was used to diagnosis depression. RESULTS: The prevalence of the depression among the patients surveyed was 46.2%. Among 8 factors correlated with the depression at the univariate analysis, only 2 factors were still strongly correlated at the multivariate analysis: professional inactivity (OR = 6.54; p = 0.01) and anxiety (OR = 1.,5; p = 0.00). CONCLUSION: According to our study, professional inactivity and/or anxiety should make looking for depression in order to optimize the management of the patients on chronic hemodialysis.

Primary membranoproliferative glomerulonephritis in Sfax, Tunisia: epidemiologic profile and prognostic factors.

INTRODUCTION: membranoproliferative glomerulo nephritis (MPGN) is a rare kidney disease with a poor prognosis as 50% of patients attend the end stage renal failure after 10 years of follow up. Several factors have been described associated with poor renal prognosis. The aim of our study is to determine the epidemiologic profile and to identify prognostic factors of MPGN. METHODS: our study is retrospective over a period of 16 years (January 1996 - December 2011) including all cases of primary MPGN aged more than 15 years, collected at the nephrology department of Hedi Chaker University Hospital, Sfax, Tunisia. RESULTS: we collected 118 cases of primary MPGN, with mean age of 45 (SD 19) years. The incidence of MPGN has decreased from 10 cases/year between 1996 and 1999 to 5 cases/year between 2008 and 2011. Seventy-nine percent of patients (n=93) had renal failure at the moment of diagnosis (e-GFR less than 60 ml/min/1.73m2;). After a mean follow-up of 51.9 (SD 44) months, progression to end stage renal failure was observed in 43.5% of followed cases (n=20). On univariate analysis, factors associated with death or progression to end stage renal failure were initial renal failure and sclerotic glomeruli (respectively p at 0.040 and 0.032). Multivariate analysis indicated that initial renal failure was significantly correlated with death or progression to end stage renal failure (HR: 0.14, 95% CI (0.033-0.593), p=0.008). CONCLUSION: there has been a decline in the number of cases of MPGN diagnosed in our hospital. The presence of renal failure at diagnosis was associated with death or progression to end stage renal failure.

[Pregnancy in patients on chronic haemodialysis: about 25 cases which occurred in the south of Tunisia]. / La grossesse en hémodialyse chronique: à propos de 25 cas survenus dans le Sud Tunisien.

INTRODUCTION: the occurrence of pregnancy in patients on chronic haemodialysis is rare. However, given the evolution in dialysis technique, improvement in fertility is possible. The purpose of our study was to report our experience concerning the occurrence of pregnancy in patients on dialysis and to identify factors involved in its success. METHODS: we conducted a retrospective study on 25 spontaneous pregnancies occurred in 19 patients treated with periodical hemodialysis in different hemodialysis centers in the south of Tunisia over a period of 34 years. RESULTS: maternal age at the onset of pregnancy was, on average, 35.6 years [23-44 years] with an average seniority in hemodialysis of 4.22 years [1-17 years]. Seven patients (37%) had residual diuresis (>500 ml/24h). The prescribed weekly number of hours of dialysis was ≥16 hours per week in 7 cases and ≥20 hours in 4 cases. Success of pregnancy (new-born surviving at least 28 days) was estimated at 56%. The median gestational age was 34 weeks of amenorrhea [28-38 WA]. The average neonatal weight was equal to 1970g [1500g-2300g]. Analytical study showed a significant correlation between the increase in the hours of dialysis per week and the success of pregnancy (R=0.59; p=0.002). CONCLUSION: it was noted that with adequate support and in particular, increasing the number of sessions of dialysis, materno-fetal complications can be minimized and the balance risk-benefit can turn the chance for a woman on dyalisis to become pregnant.

Clinical and diagnostic value of ribosomal P autoantibodies in systemic lupus erythematosus.

OBJECTIVE: To analyse prospectively the diagnostic sensitivity and specificity as well as the clinical relevance of ribosomal P (anti-P) autoantibodies in a large cohort of SLE patients. METHODS: The anti-P autoantibodies were evaluated in the serum of 200 Tunisian SLE patients at disease onset and 130 various control subjects by a sensitive immunodot assay. A complete laboratory evaluation and clinical examination were performed in each SLE patient. During the follow-up, the patients were regularly monitored for clinical parameters. Global SLE activity was measured by the ECLAM. RESULTS: The sensitivity and specificity of anti-P testing for SLE were 23.5 and 98.4%, respectively. The anti-P-positive samples 14/47 (29.8%), 27/47 (57.4%) and 5/47 (10.6%) were negative for anti-dsDNA, anti-Sm or both antibodies, respectively. The anti-P-positive patients showed more active disease activity and a much higher prevalence of arthritis. An association between IgG aCLs and anti-P antibodies was also found. However, anti-P antibodies were not associated with neuropsychiatric manifestations or lupus nephritis. CONCLUSION: This study does not seem to confirm the described association of anti-P antibodies with neuropsychiatric manifestations of SLE. However, it supports the anti-P antibody association with arthritis and disease activity as well as the presence of aCL. Based on our study and other related studies, we propose that, akin to anti-Sm and anti-dsDNA, anti-P antibodies detected by one agreed method may be considered for inclusion as a criterion for the classification of SLE.

Infective endocarditis in hemodialysis patients: clinical features, echocardiographic data and outcome: a 10-year descriptive analysis.

BACKGROUND: Infective endocarditis (IE) is a dreaded complication in hemodialysis (HD) patients and is strongly associated with morbidity and mortality. OBJECTIVES: Our aim was to investigate clinical and echocardiographic characteristics, microbiological profile, management and outcome of patients on HD in a Tunisian (Tunisia, North Africa) high-volume tertiary-care centre. METHODS: Among 182 patients who fulfilled the modified Duke criteria for infective endocarditis between January 1997 and December 2006, 16 were on chronic HD and were included in the study. RESULTS: Mean age was 52.5 +/- 22.3 years, ten were male and arteriovenous fistulas were the most commonly used access sites (12 out of 16 cases). Average duration of dialysis was 27.3 +/- 30 months. Major causative organisms were Staphylococcus species (including methicillin-resistant Staphylococcus aureus) in 11 (68.7%) of the 16 cases. The mitral valve was the most commonly affected [9 patients out of 16 (56.2%)], followed by aortic valve in 4 cases (25.0%) and tricuspid valve in 1 case (6.2%). Complications were frequent, including congestive heart failure (56.2%), secondary septic localisations (31.2%), arterial emboli (18.7%), and cerebral haemorrhage (6.2%). Five patients underwent surgery and seven died during hospitalization (43.7% mortality rate). No recurrences of IE were recorded in the nine survivors after average 21.7 +/- 17.3 months follow-up. CONCLUSION: In this largest reported confirmed IE series in dialysis patients in a developing country, mortality was very high; mitral valve was the most commonly affected valve. Staphylococcus species were the major causative organisms.

Renal alpha-smooth muscle actin: a new prognostic factor for lupus nephritis.

AIM: Systemic lupus erythematosus (SLE) is the prototype of autoimmune disease where renal involvement is frequent and always severe. Histological prognostic factors proposed for lupus nephritis (LN) including the World Health Organization and International Society of Nephrology/Renal Pathology Society--Working Group on the Classification classifications, active (AI) and chronicity (CI) indices may not predict response to treatment. The aim of this study was to correlate alpha-smooth muscle actin (alpha-SMA) expression, an early marker of glomerular and interstitial response to injury, to AI and CI, renal scarring progression and response to treatment. METHODS: Fifty-seven kidney biopsy specimens obtained from 32 patients suffering from LN were studied. Twenty patients with class IV LN at first biopsy were identified to study renal progression to chronic renal failure until the use of immunosuppressive treatment. RESULTS: Interstitial alpha-SMA (I-alpha-SMA) was correlated only with CI (P < 0.001) whereas mesangial alpha-SMA (M-alpha-SMA) was correlated with neither LN activity (P = 0.126) nor sclerosis (P = 0.297). Only I-alpha-SMA was correlated with renal failure (P = 0.01). We divided patients with class IV LN into progressors and non-progressors based on the slope of serum creatinine. At first biopsy, M-alpha-SMA and I-alpha-SMA, but not AI and CI, were correlated with renal failure progression (M-alpha-SMA, 9.7b1.1 vs 7.8b1.4, P = 0.004; and I-alpha-SMA, 9.3b1.1 vs 6.5b3.2, P = 0.011). CONCLUSION: The study data highlight that I-alpha-SMA immunostain in class IV LN patients was correlated with chronicity indices. Moreover, M-alpha-SMA and I-alpha-SMA expression in first biopsy predicted renal progression modality. alpha-SMA expression may therefore be a useful marker to predict renal prognosis in LN.

[Adult Schönlein-Henoch purpura associated with epidermoid carcinoma of the lung]. / Association purpura rhumatoïde de l'adulte et carcinome épidermoïde du poumon.

INTRODUCTION: Association between Schönlein-Henoch purpura and neoplasm can suggest the responsibility of tumour antigens in the genesis of the vasculitis. We report a new case of squamous cell carcinoma associated with Schönlein-Henoch purpura and we discuss the reality of this association. CASE REPORT: We report the case of a 50-year-old man who presents Schönlein-Henoch purpura with a purpura of lower limbs, joint involvement, gastrointestinal lesions and IgA renal mesangial deposits. The patient received three intravenous methylprednisolone pulses followed with oral corticosteroids. Six months later, while the vasculitis was in remission, the patient presented a squamous cell lung carcinoma. He was treated by chemotherapy and local radiotherapy. At the late follow-up, the neoplasm was incompletely resolved. CONCLUSION: The neoplasm could be responsible of the development of the Schönlein-Henoch purpura. The discovery of this systemic vasculitis in an elderly patient should warrant a deep screening for an occult neoplasm.

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare group of disease that affect the tubules of the kidney. There are 4 known subtypes of ADTKD classified based on causative genes and clinical features. In our study, we aimed to identify the causative subtypes of ADTKD in a Tunisian ADTKD family (3 affected members), in whom standard nephrological diagnosis did not provide clear subtype of ADTKD, until genetic testing was performed. Sanger sequencing was performed for UMOD, HNF1ß and REN genes. Mutational analysis allowed us to detect a heterozygous mutation in the REN gene: c.1172C > G, (p.T391R) in exon 10. In silico analyses predicted that the novel likely pathogenic mutation affect protein stability and 3D structure. Our study highlights the importance of establishing a genetic diagnosis to identify the subtype of ADTKD for better patient care. To the best of our knowledge, we report here a first Tunisian ADTKD-REN family.

[Epidemiological profile of terminal chronic renal failure in the region of Sfax]. / Profil épidémiologique de l'insuffisance rénale chronique terminale dans la région de Sfax.

INTRODUCTION: Terminal chronic renal failure is a truly global public health problem. In 2011, the cost of management of patients on dialysis has surpassed 90 million dinars (37.000 euro) in Tunisia, nearly 5% of the overall health spending. A better knowledge of the epidemiological profile of terminal chronic renal failure contributes to the implementation and evaluation of health strategies aimed to improve prevention and disease management. This study aimed to describe the epidemiological profile of incident cases in the Sfax Governorate over the period of 10 years. METHODS: We conducted a descriptive retrospective study over the period from January 2003 to December 2012. The incident cases of terminal chronic renal failure in the Sfax Governorate were included in the study. RESULTS: The diagnosis of terminal chronic renal failure was made in 1708 cases: 957 men and 751 women (sex-ratio = 1.27). The average age was 58.4 years [10-100 years]. The study of the evolution of the average age during the study period showed a tendency to increase with positive correlation coefficient (0.749) and p = 0.006. The main causal nephropathy was diabetic nephropathy (21.5%), with a significant increase in its frequency from one year to the other (positive correlation coefficient (0.770) with p = 0.009). Hemodialysis was the dialysis technique of choice, performed in 96% of patients. CONCLUSION: A national registry is indispensable in order to better understand the epidemiological profile of terminal chronic renal failure in Tunisia and to improve its management.

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.

[Post-streptococcal glomerulonephritis in the south of Tunisia: A 12-year retrospective review]. / La glomérulonéphrite aiguë post-streptococcique de l'enfant dans le sud tunisien : étude rétrospective de 12 ans.

AIM: Post-streptococcal glomerulonephritis (PSGN) is a frequent cause of acute nephritis in children. This study aimed to describe the epidemiology, clinical characteristics and outcomes of PSGN and look for predictor's factors of severity. METHODS: A 12-year retrospective review of case notes and laboratory data was conducted at a department of pediatrics, pediatric emergency and intensive care, Hedi Chaker Hospital. RESULTS: One hundred seventy eight children were treated for PSGN with a mean age of 7.6 ans±3.43 ans. One hundred and forty-two patients (80%) had a history of a recent upper respiratory tract or skin infection. Streptococcal pharyngitis was the most common cause, identified in 113 patients (67.6%). Macroscopic hematuria and edema were noted in 135 (75.8%) and 114 cases (64%) respectively. Hypertension was present in 55 patients (31%). Oliguria was noted in 30 children (16.8%). Sixty-six subjects (37%) developed acute renal impairment (creatinine≥70 micromoles/L). No correlation was demonstrated between acute renal impairment and age, sex, triggering infection, anemia and white blood cell count. Creatinine greater than 56.35 micromoles/L was associated with a high risk of developing high blood pressure. The mean length of admission was 5.8 days±4.44. Only one subject has ongoing renal dysfunction. CONCLUSION: PSGN remains a common nephropathy in our region. The detection and effective treatment of any infection that may be involved can reduce the incidence of this disease.

[Renal biopsy findings in diabetes mellitus]. / La ponction biopsie renale chez le diabetique: interet et resultats.

BACKGROUND: The prevalence of diabetic patients with endstage renal disease is increased overall the word. Renal biopsy is sometimes necessary to precise the type of renal damage. AIM: To precise the type and the frequency of non diabetic nephropathy in diabetic patients. METHODS: We enrolled retrospectively during 17 years, 72 diabetic patients who had a renal biopsy. RESULTS: A non diabetic nephropathy was found in 69.5 % of them. Its presence was correlate to the presence of hematuria and the absence of diabetic retinopathy. We can successfully treated nine patients with minimal-change nephrotic syndrome and one patient with crescentic glomerulonephritis. CONCLUSION: Renal biopsy must be done in diabetic patient with hematuria or in the absence of diabetic retinopathy.