S. Abroug

Centre Hospitalier Universitaire de Sahloul, Justiniapolis, Sūsah, Tunisia

Are you S. Abroug?

Claim your profile

Publications (44)16.62 Total impact

  • Journal of Neuroradiology. 01/2014; 41(1):7.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Steroid-resistant nephrotic syndrome (NS) remains one of the most intractable causes of end-stage renal disease in the first two decades of life. Several genes have been involved including NPHS1, NPHS2, WT1, PLCE1, and LAMB2. Our aim was to identify causative mutations in these genes, in 24 children belonging to 13 families with NS manifesting with various ages of onset. We performed haplotype analysis and direct exon sequencing of NPHS1, NPHS2, PLCE1, LAMB2, and the relevant exons 8 and 9 of WT1. Ten different pathogenic mutations were detected in seven families concerning four genes (NPHS1 (3/7), LAMB2 (2/7), NPHS2 (1/7), and WT1 (1/7)). Five of the detected mutations were novel; IVS9+2 T>C and p.D616G in NPHS1; p.E371fsX16 in NPHS2, and p.E705X and p.D1151fsX23 in LAMB2. Nine of 24 patients failed to be categorized by mutational analysis. Our study extends the spectrum of abnormalities underlying NS, by reporting novel mutations in the NPHS1 and NPHS2 genes and the first cases of LAMB2 mutations in Tunisia. Congenital and infantile NS can be explained by mutations in NPHS1, NPHS2, WT1, or LAMB2 genes. The identification of additional genes mutated in NS can be anticipated.
    Pediatric Nephrology 02/2011; 26(2):241-9. · 2.94 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: B-type natriuretic peptide (BNP) is a biomarker of cardiovascular disease that is common in adults with chronic kidney disease (CKD). However, in children with CKD, the range and predictive power of BNP concentrations are not known. We aimed to determine the effect of HD on BNP, as well as the prognostic impact of BNP, in end-stage renal disease (ESRD) children undergoing hemodialysis (HD). Thirty-five children with chronic renal failure (16 boys age 12.1 ± 3.7 years) on maintenance HD were included. BNP level was measured, and Doppler echocardiography was performed 30 min before (pre-HD BNP) and 30 min after (post-HD BNP) HD in each patient. An adverse event was defined as all-cause death and heart failure hospitalization. The median pre-HD BNP, the post-HD BNP, and the change in BNP were, respectively, 240 pg/ml (72 to 3346), 318 pg/ml (79 to 3788), and 9 pg/ml (-442 to 1889). Pre-HD BNP concentration was negatively correlated with left ventricular (LV) ejection fraction (r = -0.41, P = 0.018). During a mean follow-up of 39 ± 14 months, 6 patients died, and 3 were hospitalized for heart failure. Using univariate analysis, BNP before and after HD as well as Doppler tissue imaging velocities had a strong graded relationship with adverse events. Cox proportional hazards model demonstrated that pre-HD body weight (P = 0.008), pre-HD BNP (P = 0.011), and post-HD BNP (P = 0.038) remained independent predictors of adverse outcome. Even in case of ESRD, BNP still strongly correlated with LV systolic and diastolic dysfunction and was associated with mortality in HD children.
    Pediatric Cardiology 02/2011; 32(5):568-77. · 1.20 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: 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 to provide an accurate tool for diagnosis of presymptomatic patients as well as for prenatal diagnosis in the affected families. Polymerase chain reaction/Restriction Fragment Length Polymorphism, were used to detect the four mutations in the AGXT gene in DNA samples from 57 patients belonging to 40 families. Two mutations causing PH1 were detected in 24 patients (42.1%), with a predominance of the I244T mutation (68% of patients) and 33_34insC (in the remaining 32%). In 92% of cases, mutated alleles were in homozygous state. The presented clinical features were similar for the two mutations. The age of onset was heterogeneous with a higher frequency of the pediatric age. In 58.3% of cases, the presentation corresponded to advanced renal disease which occurred early (< 5 years) in the two mutations. In adolescents, only the I244T mutation was detected (41.1%). I244T and 33_34insC mutations were observed in adult patients, with 17.6% and 12.5% respectively. Limited mutation analysis can provide a useful first line investigation for PH1. I244T and 33_34insC presented 28.2% of identified mutations causing disease in our cohort. This identification could provide an accurate tool for prenatal diagnosis in the affected families, for genetic counselling and for detection of presymptomatic individuals.
    BMC Nephrology 01/2011; 12:25. · 1.64 Impact Factor
  • Médecine et Maladies Infectieuses 12/2010; 40(12):717-9. · 0.75 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: PurposeContrasting data exist about the hemodialysis induced changes of ventricular diastolic and systolic functions in adults. Few data in children with end-stage renal disease (ESRD) are reported. The aim of the present study was to evaluate the effect of a single hemodialysis (HD) session on left ventricular (LV) systolic and diastolic function using conventional pulsed-Doppler echocardiography and pulsed tissue Doppler imaging (TDI) in hemodialysis children.
    Annales De Cardiologie Et D Angeiologie - ANN CARDIOL ANGEIOL. 01/2010; 59(1):14-19.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Contrasting data exist about the hemodialysis induced changes of ventricular diastolic and systolic functions in adults. Few data in children with end-stage renal disease (ESRD) are reported. The aim of the present study was to evaluate the effect of a single hemodialysis (HD) session on left ventricular (LV) systolic and diastolic function using conventional pulsed-Doppler echocardiography and pulsed tissue Doppler imaging (TDI) in hemodialysis children. Thirty-five children with chronic renal failure (15 males, aged 12.8+/-3.8 years) on maintenance hemodialysis underwent conventional 2D and Doppler Echo together with measurement of longitudinal mitral annular motion velocities. Echocardiographic parameters were obtained 30 minutes before and 30 minutes after HD. Paired data were compared. Hemodialysis led to reduction in LV end-diastolic volume (p=0.001), end-systolic volume (p=0.05), left atrium area (p<0.0001), peak early (E wave) transmitral flow velocity (p=0.005), peak S velocity of pulmonary vein flow (p=0.002), aortic time velocity integral (p<0.0001) and aortic ejection time (p<0.0001). No significant change in Tei Index was observed after HD. Regarding TDI measures, velocities were not affected by preload reduction. Only the early diastolic velocities on the septal side of the mitral annulus decreased significantly (p=0.001) and the systolic velocities on the lateral side of the mitral annulus increased significantly (p=0.042) after hemodialysis. Most of Doppler-derived indices of diastolic function are preload-dependent. TDI velocities and Tei Index were not or minimally affected by preload reduction in hemodialysis children.
    Annales de cardiologie et d'angeiologie 10/2009; 59(1):14-9. · 0.21 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: We report 3 cases of primary oxalosis with nephrocalcinosis and severe renal failure. Extrarenal involvement was noted in bones in 3 cases, the heart in 2 cases, the central nervous system in 2 cases, the skin in 1 case and the eye in 1 case. The 3 patients presented with acute digestive disorders. Ultrasonography and CT scans showed digestive wall calcifications in addition to the classic appearance of primary oxalosis such as nephrocalcinosis or bone involvement. Primary hyperoxaluria is characterized by a calcium deposit in different tissues, mainly in kidneys. Digestive wall involvement has never been reported in the literature. Primary oxaluria should be considered in the presence of such a deposit in the gut wall.
    Archives de Pédiatrie 09/2009; 16(11):1453-6. · 0.36 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The congenital tracheal stenosis (CTS) is a very rare, potentially lethal malformation (0.3 to 1% of laryngotracheal stenosis). It does also constitute a rare cause of congenital stridor. The authors report a new case of CTS and analyse its particularities. Case report A 4-month-old boy presents since birth wheezing, accesses of polypnea and cyanosis, with progressive aggravation. He was hospitalized for acute respiratory distress. A severe bronchiolitis was diagnosed fastly, and the child profited from a symptomatic treatment containing respiratory physiotherapy. The evolution was marked by disappearance of the sibilant rales and persistence of an intense dyspnea with expiratory stridor. A laryngotracheoscopy found a larynx of normal aspect, with presence of a tight tracheal stenosis located at 1 cm of the carina and extended over a height of 1 cm. A helicoid thoracocervical scanner confirmed tracheal stenosis and eliminated an extrinsic tracheal compression. The use of Montgomery T-tube was without success on several attempts. The child was maintained in artificial ventilation by tracheotomy for 3 months. Surgical treatment (resection anastomosis of the tracheal stenosis) was made at the age of 7 months. Control spiral computed tomography and tracheoscopy were normal after 3 and 5 months of surgical treatment respectively. Conclusion Diagnosis of CTS must be envisaged in every newborn presenting stridor at birth. Management of this pathology remains difficult and requires a multidisciplinary assumption of responsibility.
    Journal de Pédiatrie et de Puériculture. 02/2009; 22(1).
  • [Show abstract] [Hide abstract]
    ABSTRACT: We report 3 cases of primary oxalosis with nephrocalcinosis and severe renal failure. Extrarenal involvement was noted in bones in 3 cases, the heart in 2 cases, the central nervous system in 2 cases, the skin in 1 case and the eye in 1 case. The 3 patients presented with acute digestive disorders. Ultrasonography and CT scans showed digestive wall calcifications in addition to the classic appearance of primary oxalosis such as nephrocalcinosis or bone involvement. Primary hyperoxaluria is characterized by a calcium deposit in different tissues, mainly in kidneys. Digestive wall involvement has never been reported in the literature. Primary oxaluria should be considered in the presence of such a deposit in the gut wall.
    Archives De Pediatrie - ARCHIVES PEDIATRIE. 01/2009; 16(11):1453-1456.
  • Annales de Dermatologie et de Vénéréologie 12/2008; 135(11):796-7. · 0.60 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: In spite of its rarity, the haemolytic and uremic syndrome (HUS) constitutes the first aetiology of acute renal insufficiency (ARI) in child. The aim of this work is to analyze clinical and evolutive aspects of the HUS in child. We studied retrospectively 17 cases of HUS in child enrolled in the paediatrics' department of Sahloul Hospital during eight years period (1996 to 2003). It is about four boys and 13 girls (sex-ratio = 0.3) aged three months to nine years (mean age: 32 months). Typical HUS was observed in eight child and atypical HUS in the nine others which three presenting a familial form and one associated with steroid resistant nephrotic syndrome. Diagnosis of HUS was established on the classic triad of the disease (anaemia, thrombopenia and ARI) and/or by the histology. Extra-renal manifestations (neurological or digestive involvement) were observed in 11 patients. A blood transfusion was indicated in 13 patients presenting severe anaemia. Peritoneal dialysis was indicated for nine patients while three others required haemodialysis because renal insufficiency had evolved quickly to the end stage. Thirteen cases of HUS (eight typical and five atypical) have received plasma therapy during two to five days. The short-term evolution was favourable with recuperation of normal renal function in seven cases (five with typical SHU and two with atypical SHU). Three children developed terminal renal insufficiency and were currently in haemodialysis. Five patients (four cases of atypical HUS and one case of typical HUS) died of the continuations of the ARI and/or nosocomial infection. The HUS remains a serious illness because of the risk of complications that can occur to short and long-term. Currently, the specific treatment is only recommended in patients presenting an atypical form of HUS.
    La Tunisie médicale 06/2008; 86(5):479-85.
  • [Show abstract] [Hide abstract]
    ABSTRACT: L’hyperhomocystéinémie, facteur de risque cardiovasculaire indépendant, est de règle chez les hémodialysés adultes. Elle peut être aggravée par un déficit en vitamines B et/ou par les anomalies génétiques, notamment le génotype C677T de la méthylène tétrahydrofolate réductase (MTHFR). Rares sont les informations concernant les enfants hémodialysés et surtout concernant le protocole de supplémentation vitaminique adéquat. Notre objectif est d’étudier chez des enfants hémodialysés, l’homocystéine plasmatique totale (tHcy), le statut vitaminique B9 et B12 et le génotype C677T/MTHFR pour évaluer leur statut actuel et l’éventuel nécessité d’adapter le protocole de supplémentation vitaminique à leurs génotypes. Cinquante et un patients ont été recrutés de l’unité d’hémodialyse pédiatrique, traités depuis 37,19 ± 35,17 mois. Trente sont supplémentés en folates (protocole 1) et 21 en folates et en vitamines B1, 6 et 12 (protocole 2).Une population d’enfants témoins appariés en âge et en sexe a été également recrutée. Chez les hémodialysés, tHcy, les folates et la vitamine B12 plasmatiques ont été significativement plus élevées par rapport aux témoins, respectivement (13,4 ± 5,2 versus 6,9 ± 2,1 μmol/L ; 14,3 ± 6 versus 8,6 ± 2,4 ng/mL et 818 ± 402 versus 477 ± 222 pg/mL). La comparaison de tHcy entre les deux protocoles a montré une différence significative chez les CC (p = 0,003) mais pas chez les CT et les TT. Cela pourrait suggérer que la supplémentation vitaminique devrait être adaptée au génotype C677T/MTHFR. Les folates paraissent suffisant pour les génotypes CT et TT tout en augmentant la dose pour les hétérozygotes, les CC semblent nécessiter folates et vitamines B12 (B1 et B6 ??).
    Immuno-analyse & Biologie Specialisee - IMMUNO-ANAL BIOL SPEC. 01/2008; 23(6):368-374.
  • Archives De Pediatrie - ARCHIVES PEDIATRIE. 01/2008; 15(5):1005-1005.
  • Archives De Pediatrie - ARCHIVES PEDIATRIE. 01/2008; 15(5):974-974.
  • Annales De Dermatologie Et De Venereologie - ANN DERMATOL VENEREOL. 01/2008; 135(11):796-797.
  • Archives De Pediatrie - ARCHIVES PEDIATRIE. 01/2008; 15(5):974-975.
  • Archives De Pediatrie - ARCHIVES PEDIATRIE. 01/2008; 15(5):974-974.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Renal involvement is one of the most severe and frequent manifestations of the systemic lupus erythematosus (SLE). Aim : In this study, we analyzed clinical and evolutive particularities of 14 paediatric cases of lupus nephritis (LN). It's a retrospective study in 14 children with lupus nephritis followed-up in the paediatrics department of Sousse and Mahdia between 1983 and 2004. There were 12 girls and two boys (sex-ratio = 0.16) aged four to 14 years (mean age =10 years). At the first presentation, we noted proteinuria in all patients with nephrotic syndrome in six cases, hypertension with variable severity in five cases, hematuria in six cases and a variable severity of renal insufficiency in six cases. Histological examination of kidney performed in 10 patients with severe nephropathy, revealed class IV glomerulonephritis in four cases, class V in two cases and class III in four cases. Thirteen patients were treated by corticosteroids associated with immunosuppressive agent in six cases. One patient had not received any treatment. Five patients were died of the continuations of SLE complications or immunosuppressive therapy. For the other patients, one is in clinical and biological remission since six years, four are lost of view, one is in end stage renal failure, two presented relapsing evolution and one presents refractory form of LN. Lupus nephritis is severe in our patients with predominance of class III and IV. New therapeutic strategies permitted to improve the renal survival but at the cost of an important iatrogenic morbidity.
    La Tunisie médicale 09/2007; 85(8):644-50.
  • [Show abstract] [Hide abstract]
    ABSTRACT: The goal of this work is to analyze clinical and therapeutics particularities of primary hyperoxaluria in children in Tunisian centre. We studied retrospectively 15 cases of primary hyperoxaluria enrolled during 9 years period (1994-2002). It is about 2 boys and 13 girls (sex - ratio = 4.5) aged 2 month to 13 years (mean age: 4 years). Six patients presented the infantile form and nine the juvenile form of HP. At the moment of diagnosis, renal function was normal in one patient, moderately altered in another and severely altered in the other patients. All patients had nephrocalcinosis and 6 among them radio-opaque renal calculi associated. Diagnosis of HP was established in 11 cases by hyperoxaluria and/or important hyperoxalemia or on the data of the renal biopsy and biochemical analysis of renal calculi in 4 cases. The so-called "maghrebin" mutation (Ile244Thr) sought-after in 9 children, has cannot be identified that in 2 among them. Eight patients died of the continuations of their illness. The seven other patients again in life present a terminal renal insufficiency treated by haemodialysis. No patient could benefit from organ transplantation. Primary hyperoxaluria is a very heterogeneous disease on the plan clinic that genetic. In Tunisia where it constitutes a frequent cause of end stage renal failure, prenatal diagnosis of this disease is of a big interest.
    La Tunisie médicale 07/2007; 85(6):513-8.

Publication Stats

47 Citations
16.62 Total Impact Points

Institutions

  • 2003
    • Centre Hospitalier Universitaire de Sahloul
      Justiniapolis, Sūsah, Tunisia
  • 1993
    • Centre Hôpital Universitaire Farhat Hached
      Susa, Sūsah, Tunisia