Search

Background and Aims Although Acute rejection (AR) is a complication associated with the early period after kidney transplantation (KT), its complications are mostly seen after a long term. The aim of this study was to evaluate graft outcome after AR. Method It was a longitudinal, retrospective, analytical study including kidney transplant patients followed up in our department between 1986 and 2019. Our population was divided in 2 groups: group A (129 KT complicated by at least one episode of AR) and group B (491 KT not complicated by AR). Results AR was responsible of immediate loss of 2 grafts. Chronic graft dyfonction was more frequent in group A (44,1% versus 17,4%, p 130 µmol/l was higher in group A at 3, 6 months, 1 year, 2 years, 3 years and 5 years (respectively p =0,0186 ; 0,001 ; Graft survival was better in group B (p Conclusion Even if graft outcome after AR has improved over time, its deleterious effect is still inevitable. So AR must be prevented in order to enhance graft outcome.

Background and Aims Acute rejection (AR) is a redoubtable immunological complication after kidney transplantation (KT). Maintenance immunosuppressive treatment (IS) is a corner stone in prevention of AR. The aim of this study was to define the role of different maintenance IS in preventing AR. Method It was a longitudinal, retrospective, analytical study including kidney transplant patients followed up in our department between 1986 and 2019. Our population was divided in 2 groups: group A (129 KT complicated by at least one episode of AR) and group B (491 KT not complicated by AR). Results All patients received low dose of corticosteroids (CS) in their IS. Calcineurin inhibitors (CI) were not prescribed in first intention in 33,3% of groups A patients versus 13,2% in group B. Cyclosporin A (CsA) was prescribed in first intention in 57,4% of group A patients versus 45,7% in group B. Tacrolimus was prescribed in first intention in 9,3% of group A patients versus 41,1% in group B (p All patients received Atimetabolite (AM) in their IS. In first intention, Azathioprin was prescribed in 73,6 % of group A patients and Mycophenolate Mofetil (MMF) was prescribed in 78,6% of group B patients ( In first intention, maintenance IS consisted in low dose corticosteroids (CS) associated with AM in 13,5% of our patients. CI was associated to CS and AM in 86,5% of patients. Tritherapy was significantly more used than biotherapy in group A (p Conclusion Maintenance IS therapy must be well chosen according to immunological risk in order to prevent AR.

Introduction Meme si l’association entre infection a Cytomegalovirus (CMV) et rejet aigu (RA) apres transplantation renale (TR) est connue depuis plusieurs annees, les liens entre ces 2 complications demeurent toujours debattus. L’objectif de notre etude etait de rapporter notre experience en ce qui concerne l’association de ces 2 complications. Description Nous avons mene une etude longitudinale, retrospective, analytique, incluant les patients transplantes du rein entre 1986 et 2018. Methodes Notre population etait subdivisee en deux groupes : un groupe A comportant les TR compliquees d’au moins un episode de RA et un groupe B incluant celles qui n’ont jamais ete compliquees de RA. Resultats Parmi les 620 patients transplantes dans notre centre au cours de la periode d’etude, 129 (20,8 %) ont presente 149 episodes de RA (20 patients ont developpe un 2eme episode). L’infection a CMV etait plus frequente dans le groupe RA(+) (35,5 % contre 16,1 % dans le groupe RA(-), p 3 mois), p = 0,0016. Des signes histologiques de CMV ont ete notes dans 5 des 45 biopsies du greffon realisees pour suspicion de RA. L’infection a CMV etait un facteur de risque independant de survenue de RA apres etude multivariee (RR = 2,275 ; p = 0,0002). Trois episodes d’infection a CMV sont survenus precocement apres un episode de RA. Le delai etait de 20, 23 et 30 jours apres l’instauration du traitement antirejet. Conclusion L’infection a CMV est consideree comme un facteur de risque de survenue de RA apres TR. Elle doit etre prevenue pour diminuer l’incidence du RA essentiellement tardif. Par ailleurs, une infection a CMV peut compliquer un RA traite du fait de l’intensification de l’immunosuppression.

Background and Aims Multiple myeloma (MM) is a malignant disease of plasma cells. It’s is characterized by clonal proliferation of malignant plasma cells producing monoclonal proteins and causing organ damage. Kidney injury is a common complication of multiple myeloma. Multiple pathogenic mechanisms can contribute to kidney injury in the patient with myeloma, some of which are the result of nephrotoxic monoclonal immunoglobulin and some of which are independent of paraprotein deposition. Method We conducted a retrospective study, from January 1974 to June 2019, including all cases of multiple myeloma with renal impairment treated in our Department. The objective of this study is to analyze the epidemiological and clinico-biological characteristics of MM with renal impairment and to identify the predictive factors of mortality. Results We collected 196 cases. The average age was 63.47 years (31-86 years) with a male predominance (sex ratio 1.27). The circumstances of discovery was dominated by asthenia, anorexia and weight loss in 150 cases (76.5%). Renal involvement was present at the time of diagnosis of myeloma in 138 patients (70.4%) with an average serum creatinine level of 686.42 μmol/l (92-2960 μmol/L). The average hemoglobin level was 8.05 ± 2.4 g/dl. The average 24-hour proteinuria was 2.62 ± 2.11 g/24h. The renal biopsy puncture was performed in 48 patients (24.4%), revealing myelomatous tubulopathy in 16.32% of cases, AL amyloidosis in 5.1% of patients, Randall disease in 3.06% of patients, nodular glomerulosclerosis in 1% of cases and membranous nephropathy in one patient. In our series, 170 patients received chemotherapy. Of the patients, 25.5% required hemodialysis at the time of diagnosis of MM. In our series, 66.83% progressed to the end stage renal disease, 25.5% were in partial remission and 2.05% in total remission. The causes of death were dominated by infectious complications (14.97%). The average renal survival was 4 months. The prognostic factors correlated with poor renal survival were tobacco (p = 0.01), serum uric acid> 600 μmol/l (p = 0.04) and 24-hour proteinuria> 5g/24h (p = 0.009). Conclusion Renal involvement is frequent in multiple myeloma. The spectrum of renal lesions is heterogeneous, and it determines the management and prognosis of MM so the factors associated with renal recovery should be studied further.

Background and Aims Lipid disorders are common in end stage renal disease patients. Renal replacement therapies and especially peritoneal dialysis (PD) results in further alteration rather than correction of lipidemia. The aim of this study is to precise the prevalence of the different lipid disorders of PD patients. Method It’s a retrospective study conducted in our PD unit in December 2019. We collected all data concerning clinical characteristics of all patients currently in PD, as well as incidence of different lipid disorders. Results There were 90 patients with an average age of 45 years (extremes: 20.5 years and 80.6 years). The sex ratio is 1.25. Fourteen were diabetic (15.5%). All patients were on Automated PD (APD) except one on Continuous Ambulatory PD (CAPD). The average duration of PD was 40.5 months. The causal nephropathy was glomerular in 26,6 % (diabetic in 14 patients (15,5%)), hypertensive 13,3%,, interstitial in 16,66%., and undetermined in 27,7%. The average Charlson score was 3,2. The average serum level of total cholesterol (TC) was 4,96 mmol/L, of triglycerides (TG) was 1,7mmol/L, of HDL-cholesterol(HDLc) was 0,93 mmol/L, and of LDL-cholesterol(LDLc) was 3,05 mmol/L. Fifty one patients had dyslipidaemia: 13 had isolated hypercholesterolemia, 19 had isolated hypertriglyceridemia, and 19 had hypercholesterolemia and hypertriglyceridemia. All dyslipidemic patients were on hypolipemic diet. Twelve (13,3%) were taking statin, no one was taking fibrate. Conclusion Chronic dialysis patients have several cardiovascular risk factors due to renal failure and comorbidities often associated. Dyslipidemia is a modifiable risk factor. It must be screened and treated to reduce morbidity and mortality.

Background and Aims The success of peritoneal dialysis (PD) depends on a functional and sustainable peritoneal access. The mechanical complications of PD (MCPD) are a major cause of technique failure. The aim of the study was to determine the different types of these complications and to define their prevalence. Method It’s a retrospective study conducted in our PD unit in December 2019. We collected all data concerning clinical characteristics of all patients currently in PD, as well as incidence, type, outcome of MCPD. Results There were 90 patients with an average age of 45 years (extremes: 20.5 years and 80.6 years). The sex ratio is 1.25. Fourteen were diabetic (15.5%). All patients were on Automated PD (APD) except one on Continuous Ambulatory PD (CAPD). The average duration of PD was 40.5 months. The average body mass index (BMI) was 23,8 kg/m? All patients had a Tenckhoff 2 cuff catheter placed by a mini laparotomy. Twenty six episodes of MCPD were noted in 17 patients (18,8%).The complications noted were early dialysate leakage in 2 patients(2,2%) spontaneously resolving before the beginning of the training, catheter obstruction in 8 patients(3 patients presented 3 episodes of obstruction each) (8,8%), umbilical hernia in 3 patients (3,3%), 2 patients had displaced repositioned catheter (2,2%). Five patients (5,5%) presented continued inflammation in the exit-site of the catheter: the outermost of the two Dacron cuffs spontaneously extruded in 2 patients, and was surgically extracted in 3 patients. Cuff externalization resolved the inflammation in all patients. Conclusion Successful access for PD placed by a trained operator is crucial in purpose to avoid MCPD. These complications must be treated on time to avoid technique failure.

Background and Aims Fluid status evaluation is essential to adjust the dry weight(DW) in chronic hemodialysis (HD) patients. Bioelectric impedance is a non invasive technique. Its contribution in HD population is well demonatrated. The aim of this study is to compare evaluation of fluid status clinically and by bioimpedance analysis. Method It’s a transversal study conducted in December 2018.We included chronic dialysis patients( for more 3 months) having 3 dialysis sessions(DS) a week. Bioimpedance analysis (BIA) was performed before and after DS. Results There were 26 patients with an average age of 51,4 years. Sex ratio was 3,33 . Average period spent in HD was 73,7 months. Vascular access was a native arteriovenous fistula in 24 patients, and a catheter in 2 patients. Seven patients had residual diuresis. Average ultrafiltration rate was 2,82 L (10 mL/Kg/h). Before DS, 20 patients had no clinical signs of fluid overload. Unconformity with BIA was noted in 12 patients, with a subclinical overload in all cases. Six patients had clinical signs of fluid overload (including hypertension (HT) in 5 cases), which was concordant with BIA. After DS, 22 patients reached their DW with a correct hydration status, 2 patients still had clinical signs of fluid overload, and 2 had isolated HTA. BIA revealed the persistence of fluid overload in 10 patients contrasting with the absence of clinical signs of hypervolemia in 8 patients. Patients who kept only HT had a normal hydration status. Conclusion Fluid status is an important adequacy issue in the treatment of renal failure. It’s a modifiable risk factor associated to mortality. Bioimpedance analysis is a great help to precise dry weight that must be integrated into our daily practice.

Background and Aims Current literature suggests the arteriovenous fistula (AVF) to be the preferred type of vascular access for hemodialysis. However, AVFs have significant and potentially deleterious effects on cardiac functions particularly in the setting of preexisting heart disease. The aim of this study is to compare the clinical and echocardiographic evolution after creation of a proximal AVF and a radial AVF. Method We conducted a retrospective descriptive study including all chronic hemodialysis patients through AVF. Group 1 (G1) included patients with proximal AVF and group 2 (G2) patients with radial AVF. Results Twenty-four patients were collected in G1 and the average age was 55 years. G2 included 13 patients with a mean age of 44 years. Systolic blood pressure decreased after AVF creation in both groups (G1: 62.5%, G2: 45%, NS). A dyspnea was noted in 70% of cases of G1 and 38.4% of cases of G2 (NS). The interventricular septum was thickened in 20.8% of cases of G1 and 38.4% of G2 (NS). Left ventricular (LV) dilatation was observed in both groups with LV diastolic telegram diameter increase of 58% in G1 versus 10% in G2 (p = 0.04). A decrease in LV ejection fraction was found in 62.5% in G1 and 46.1% in G2 (p = 0.066). The major cardiac complications in G1 were acute coronary syndrome in 5 patients and atrial fibrillation in 4 cases after an average of 60 months and 35 months, respectively. No cardiac complications were noted in G2. Conclusion AVFs remain the preferred type of vascular access for chronic hemodialysis therapy because they are associated with better long-term patency and fewer complications compared with synthetic grafts. Its seat will depend on the vascular state and the cardiac status of the dialysis patient.

Introduction Le rejet aigu (RA) est une complication immunologique redoutable apres transplantation renale (TR). L’objectif de notre etude etait de determiner les aspects epidemiologiques et demographique du RA dans une population de transplantes renaux. Description Nous avons mene une etude longitudinale, retrospective, analytique, incluant les 620 patients transplantes du rein entre 1986 et 2018. Methodes Notre population etait subdivisee en deux groupes : un groupe A comportant 129 TR (20,8 %) compliquees d’au moins un episode de RA et un groupe B incluant 491 TR qui n’ont jamais presente de RA. Resultats On a note 149 episodes de RA chez 129 patients (20 patients, soit 15,5 %, ont presente un 2e episode) dont 70,5 % etaient precoces (≤ 3 mois) et 57,7 % au cours du premier mois post TR. L’incidence globale du RA etait de 2,43/100 patients/annee. Une baisse de l’incidence du RA a ete notee au fil du temps passant de 55,4 % (entre 1986 et 1990) a 4,4 % (entre 2010 et 2018) (p Conclusion Le RA est une complication multifactorielle. Il doit etre prevenu, diagnostique et traite a temps pour eviter les sequelles a court, moyen et long terme.

Introduction L’evaluation du statut hydrique chez les hemodialyses chroniques est indispensable pour ajuster le poids sec. L’impedancemetrie est une technique non invasive dont l’apport en dialyse est bien demontre. L’objectif de ce travail est d’evaluer l’etat d’hydratation avant et apres la seance d’hemodialyse en comparant la clinique a l’impedancemetrie. Description Il s’agit d’une etude transversale faite en decembre 2019. Methodes Ont ete inclus les hemodialyses chroniques depuis au moins 3 mois a raison de 3/semaine. L’impedancemetrie etait realisee avant et apres la seance. Resultats Il s’agit de 26 malades d’âge moyen de 51,4 ans avec un sex-ratio a 3,33. L’anciennete moyenne en hemodialyse etait de 73,7 mois. L’abord vasculaire etait une fistule native chez 24 patients et un catheter chez 2 malades. Sept patients avaient une diurese residuelle. Le taux d’ultrafiltration moyen est 2,82 litres soit 10 mL/kg/h. Avant la seance, 20 patients n’avaient aucun signe clinique de surcharge. Une discordance entre les donnees cliniques et celles d’impedancemetrie etait notee chez 12 patients, avec une surcharge hydrique infraclinique dans tous les cas. Six patients ont presente des signes de surcharge clinique dont l’HTA chez 5 patients et ceci en concordance avec les donnees de l’impedancemetrie. En post-hemodialyse, 22 malades avaient atteint leur poids sec avec un etat d’hydratation normal alors que persistait une surcharge clinique chez 2 patients, et une HTA isolee chez 2 autres. L’impedancemetrie a revele la persistance d’un exces hydrique dans 10 cas contrastant avec un etat d’hydratation normal a l’examen clinique chez 8. Les patients n’ayant garde que l’HTA avaient un etat d’hydratation normal. Conclusion La balance hydrique doit etre maintenue car il s’agit d’un facteur de risque modifiable associe a la mortalite. L’impedancemetrie est d’une grande aide et a integrer dans notre pratique quotidienne.

Introduction Le transfert de l’hemodialyse chronique (HD) a la dialyse peritoneale (DP) est rare. L’objectif de cette etude est de decrire les caracteristiques et l’evolution des patients transferes de l’HD a la DP. Description Etude retrospective sur 10 ans. Methodes Les donnees de 17 patients traites par HD et transferes en DP entre janvier 2009 et decembre 2019 ont ete retrospectivement recueillies. Resultats Parmi les 256 patients commencant la DP en 10 ans, 17 etaient transferes de l’HD (6,64 %) a un âge moyen de 46,7 ans. Le sex-ratio etait 0,35. La nephropathie causale etait diabetique chez 6 patients (35,29 %). Six patients avaient une maladie cardiovasculaire revelee. Le score de Charlson moyen a l’initiation de l’HD et de la DP etait respectivement de 3,82 et 4,64. La survie moyenne de la technique d’HD etait 98,58 mois. La cause du transfert etait un probleme d’acces vasculaire chez (13/17), un syndrome de vol avec une ischemie critique chez (3/17), et le choix du patient chez 1 patient. La DP automatisee etait utilisee chez 13 malades, et la DP continue ambulatoire chez les 4 restants. La periode moyenne en DP etait 32 mois. Trois etaient retransferes en HD via un catheter apres 9 mois (pour peritonite refractaire), 3 mois et demi (pour echec repose catheter), et 10 ans (pour surcharge). En DP : six ont necessite le recours a l’HD en urgence, 58,8 % des patients ont presente une complication infectieuse, et 6 une complication mecanique. Dix-sept hospitalisations (chez 8 patients) ont ete necessaires. Sept sont decedes (41,1 %) apres une duree moyenne de 27,1 mois de l’initiation de la DP. Conclusion Le transfert de l’HD en DP concerne des patients avec des facteurs de risque cardiovasculaires preexistants qui se sont aggraves lors de l’HD chronique. La mortalite est elevee sur ce terrain.

Introduction Le succes de la dialyse peritoneale (DP) depend d’un acces fonctionnel a la cavite peritoneale. Les complications mecaniques (CM) sont une cause majeure de l’echec de la technique. L’objectif de cette etude est de determiner les differents types de CM et de definir leurs prevalences et leurs issues. Description Etude de toutes les complications mecaniques survenues chez les patients en cours de DP. Methodes Les donnees concernant les patients actuellement en DP, l’incidence, le type, et l’evolution des CM ont ete retrospectivement collectees. Resultats Quatre-vingt dix patients avec un âge moyen de 45 ans (extremes : 20,5 et 80,6 ans). Un sex-ratio a 1,25. Quatorze etaient diabetiques (15,5 %). Tous les patients etaient en DP automatisee, a part une en DP continue ambulatoire. L’IMC moyen etait 23,8 kg/m2. La duree moyenne en DP etait 40,5 mois. Tous les patients avaient un catheter Tenckhoff a 2 cuff mis en place par mini laparotomie. Vingt-six episodes de CM etaient notes chez 17 patients (18,8 %) : une fuite precoce spontanement resolutive avant le debut de l’apprentissage chez 2 patients (2,2 %), une obstruction du catheter (KT) chez 8 patients (3 patients ont presente 3 episodes chacun) soit 8,8 %, une hernie ombilicale chez 3 patients (3,3 %), 2 patients ont presente un KT deplace repositionne par mini laparotomie (2,2 %). Cinq patients (5,5 %) ont presente une inflammation continue au niveau de l’orifice de sortie du KT resolutive a l’exteriorisation du cuff sous-cutane (spontanee chez 2 patients, et chirurgicale chez 3). Aucun echec de la technique par une CM n’a ete note chez nos patients. Conclusion Un acces reussi a la cavite peritoneale place par un operateur entraine est crucial a la reussite de la technique. Les CM doivent etre traitees a temps pour eviter l’echec de la technique.

Introduction La maladie de depots d’immunoglobuline monoclonale (MDIM) de type Randall est une entite maintenant bien individualisee au sein des gammapathies monoclonales de signification renale (GMSR). Elle se definit par des depots lineaires de chaine legere monoclonale (LCDD), ou de chaine lourde (HCDD) ou des 2 (LHCDD) le long des membranes basales. Les objectifs de cette etude sont de decrire les caracteristiques cliniques, biologiques et evolutives de cette pathologie. Patients et methodes Nous avons mene une etude retrospective descriptive colligeant tous les cas de maladie de Randall diagnostiquee dans notre service de medecine interne A hopital Charles-Nicolle durant une periode de 45 ans, du 1er janvier 1974 au 31 juin 2019. Resultats Une maladie de Randall a ete diagnostiquee dans 6 cas avec un âge moyen de 55 ans (extreme : 41–69 ans), il s’agissait de 5 hommes et une femme. Les circonstances de decouverte etaient une hematurie microscopique dans deux cas, une hypertension arterielle (HTA) dans deux cas et une insuffisance renale (IR) dans deux cas. Tous les malades avaient une insuffisance renale severe et qui ont necessite le recours a l’epuration extrarenale (EER) des le diagnostic. La ponction-biopsie renale (PBR) etait indiquee devant une nephropathie glomerulaire avec hematurie dans quatre cas et une IR severe avec des reins de taille normale dans deux cas. La PBR revelait une glomerulosclerose nodulaire diffuse dans tous les cas qui etait associee dans deux cas a un rein myelomateux. La coloration rouge Congo etait negative dans tous les cas. Un patient a beneficie d’une ponction-biopsie hepatique qui a montre un aspect en faveur de maladie de Randall avec des depots localises au niveau des espaces de Disse et des membranes basales des canaux biliaires. Cinq patients ont beneficie d’un protocole therapeutique par voie orale a base de prednisone 1 a 2 mg/kg/j associe au melphalan 0,25 mg/kg/j de j1 a j4 du mois, de facon mensuelle pendant un an. Un seul patient a ete traite par bortezomib 1,3 mg/m2/j a j1, j4, j8 et j11 du mois en quatre cycles mensuels associe au dexamethasone 40 mg/j de j1 a j4 du mois de chaque cycle. L’evolution etait marquee par l’amelioration de la fonction renale chez un patient et une degradation avec EER chez cinq patients. La moyenne de survie renale etait 29,2 mois et la moyenne de survie globale etait de 41,8 mois. Deux patients sont decedes aux cours de l’evolution dont les causes etaient une cachexie profonde chez un patient et une pneumopathie hypoximiante chez l’autre patient. Conclusion La maladie des depots d’immunoglobulines monoclonales (MIDD) de type Randall est une complication rare des proliferations plasmocytaires monoclonales, L’atteinte renale est quasi constante. Le traitement du syndrome de Randall reste mal codifie en raison de la rarete de cette entite.

Introduction La nephropathie de reflux (NR) est une cause frequente d’insuffisance renale (IR) chez les jeunes. Elle traduit les consequences parenchymateuses renales du reflux vesico-ureteral (RVU). Il s’agit d’une nephropathie tubulo-interstitielle pouvant aller jusqu’a l’IR terminale. Patients/materiels et methodes Nous avons mene une etude retrospective portant sur les patients ayant une NR hospitalises dans notre service entre janvier 2001 et juin 2016. Nous avons etudie les caracteristiques demographiques, cliniques et evolutives. Resultats Il s’agit de 30 patients ayant une mediane d’âge de 21,5 ans et un sex-ratio a 1. Les antecedents medicaux etaient a type de troubles urinaires dans 56,6 % des cas, d’infections urinaires dans 36,6 % des cas, de malformations des voies uro-genitales dans 23,3 % des cas ou autres malformations dans 20 % des cas. Les circonstances de decouverte etaient : l’IR dans 80 % des cas (dont 54,1 d’emblee au stade terminal), l’infection dans 10 % des cas, le bilan de pre-transplantation renale dans 6,6 %, et les troubles urinaires dans 3,3 % des cas. L’HTA a ete retrouvee dans 66,6 % des cas, l’IR dans 100 % des cas et une proteinurie dans 23,3 % des cas. Les antecedents de traitement endoscopique d’un RVU ont ete retrouves dans 0,3 % des cas et un traitement chirurgical dans 20 % des cas. Le RVU lors de sa decouverte etait de grade 1 dans 10 % des cas, grade 2 a 3 dans 36,6 %, grade 4 dans 40 %, et grade 5 dans 10 % des cas. Discussion Le RVU est une malformation sous-estimee a un âge pediatrique pour plusieurs raisons : le depistage prenatal n’a pas couvert 100 % de la population, les troubles urinaires n’attirent pas toujours l’attention des parents et donc ne sont pas toujours explores, les episodes d’infections urinaires au jeune âge peuvent etre traites sans pousser les explorations meme en cas de recidive. La decouverte de la NR se fait souvent a un âge avance et a un stade avance. Conclusion Le RVU est une affection qui peut evoluer a bas bruit et qu’il faut savoir depister et traiter a temps pour prevenir l’evolution vers l’insuffisance renale.

Introduction Le myelome multiple (MM) est une hemopathie maligne caracterisee par la frequence de l’atteinte renale qui peut atteindre jusqu’a 50 % des patients. La severite de l’atteinte renale et le recours a l’hemodialyse constituent des facteurs de risque pejoratifs de morbi-mortalite au cours du myelome multiple. Notre but etait de preciser les caracteristiques des patients atteints d’un myelome hemodialyses au diagnostic ainsi que leurs particularites evolutives et pronostiques. Patients et methodes Il s’agit d’une etude retrospective descriptive s’etendant sur une periode de 45 ans, du 1er janvier 1974 au 31 juin 2019 incluant tous les patients atteints de myelome pris en charge dans notre service de medecine interne A hopital Charles-Nicolle et qui ont necessite l’hemodialyse au moment de diagnostic. Resultats Nous avons collige 144 cas dont 82 hommes et 62 femmes. L’âge moyen etait de 63,36 ans. Tous les patients sont classes ISS III dont 81,94 % avaient une hemoglobine Conclusion L’atteinte renale conditionne la prise en charge et le pronostic de MM. L’evaluation de la reponse renale est d’un interet capital, et les facteurs associes a la recuperation renale devraient etre etudies davantage. Le recours a l’hemodialyse constitue un facteur de risque pejoratif de morbi-mortalite au cours du myelome multiple. Des etudes impliquant l’utilisation precoce des membranes de tres haute permeabilite ont permis un meilleur sevrage de dialyse.

Introduction La principale cause des pericardites en nephrologie reste l’uremie. Toutefois, elle peut reveler des maladies de systeme, des maladies infectieuses ou des neoplasies meme chez les malades en hemodialyse. Methodes Decrire les particularites cliniques, etiologiques et evolutifs des pericardites en nephrologique, identifier les facteurs predictifs de leur recidive. Etude retrospective descriptive sur une periode de 8 ans incluant 49 patients suivis dans un service de nephrologie et presentant une pericardite. Resultats obtenus ou attendus L’age moyen etait de 51 ans avec un sexe ratio de 0,7. Seulement 29 patients 59 % etaient en insuffisance renale chronique terminale. La nephropathie initiale etait diabetique(38,7 %), lupique(18,4 %),une maladie de Wegener(8,2 %), tubulo-interstitielle(14,3 %),vasculaire(4 %), une amylose renale(6,2 %) et indeterminee(10,2 %). Il s’agissait d’une polyserite dans 51 % des cas. Elle etait d’une abondance faible, moyenne ou grande dans 41,34 ou 25 % des cas. Un drainage etait necessaire dans 10,2 %des cas. Les etiologies evoquees etaient : l’uremie (49 %),le lupus (18,4 %), l’hypothyroidie (4 %), la maladie de Wegener (8 %), une cause neoplasique dans 1 cas, l’origine infectieuse (10 %, 1 cas de parvovirus B19 et 4 cas de tuberculose), un cas de syndrome nephrotique intense avec un tableau d’anasarque et 3 cas d’amylose AA. Le traitement etait base sur l’intensification des seances d’hemodialyse, pour les dialyses chroniques, ainsi que le traitement etiologique. Une recidive etait notee dans 16,3 % des cas. Les facteurs predictifs etaient : l’uremie (p = 0,002), l’etiologie lupique (p = 0,012), le stade terminal de l’insuffisance renale (p = 0,032) et le recours a un geste de drainage pericardique auparavant (p = 0,005). Conclusion Les pericardites en nephrologie ne sont pas liees seulement a une mauvaise dialyse. Les etiologies sont nombreuses avec une forte prevalence des maladies systemiques. Elles s’accompagnent le plus souvent d’anomalies cliniques et paracliniques qui orientent le diagnostic. Toutefois ces anomalies ne sont pas toujours typiques chez nos malades ce qui explique la difficulte du diagnostic chez cette population.

Introduction Les echanges plasmatiques (EP) sont une technique d’apherese non selective par filtration ou centrifugation permettant l’epuration rapide de substances pathogenes de haut poids moleculaire. Ils ont pris une part importante dans les strategies therapeutiques proposees en nephrologie. Le but de notre travail est de determiner les indications des EP en milieu de nephrologie, les complications et les resultats de ces EP. Patients/materiels et methodes C’est une etude retrospective incluant les seances d’EP realisees sur une periode de 10 ans s’etalant de janvier 2007 a decembre 2017. Nous avons analyse les indications des EP selon le niveau de recommandation, les complications et l’impact therapeutique. Resultats Le nombre total des seances d’EP etait 81. Les EP ont ete realisees chez 13 patients dont l’âge moyen etait de 47 ans [15–81 ans] avec un sex-ratio a 1,16. Les indications des EP etaient l’hemorragie intra-alveolaire dans 11 cas avec un niveau de preuve 1C selon l’American Society for Apherisis et un syndrome hemolytique et uremique (SHU) secondaire a un lupus systemique dans 2 cas avec un niveau de preuve 2C. L’hemorragie intra-alveolaire compliquait un syndrome de Good Pasture (GP) dans 2 cas, une granulomatose avec polyangeite (GPA) dans 3 cas et une polyangeite microscopique (PAM) dans 6 cas. L’anticoagulation du circuit s’est faite par de l’heparine dans 9 cas et du citrate dans 4 cas. Le liquide de substitution etait l’albumine et/ou le plasma frais congele selon l’indication. Les complications etaient infectieuses dans 4 cas, metaboliques dans 2 cas a type d’hypocalcemie secondaire a l’utilisation du citrate. Des reactions allergiques ont ete observees dans 2 cas. Un hemopericarde lie a l’administration de l’heparine a ete signale dans 1 cas et un deces est survenu dans 1 cas. L’evolution a ete marquee par l’amelioration de l’etat respiratoire dans 7 cas. Huit patients ont necessite le recours a l’epuration extrarenale de facon periodique dont 4 patients traites pour PAM, 3 pour GPA, et 1 pour GP. Discussion Les echanges plasmatiques sont devenus une therapie incontournable en nephrologie dont l’indication doit se referer aux recommandations recentes de la Societe americaine d’apherese et etre discutee de maniere pluridisciplinaire dans les situations ou le niveau de preuve reste encore insuffisant. Conclusion En milieu nephrologique, l’impact des EP sur le pronostic vital est majeur. La tolerance est generalement bonne et les complications graves restent rares.

A recessively transmitted haemolytic anaemia associated with the lack of protein 4.2 was found in a Tunisian kindred. Trace amounts of this protein (72 kD component) became visible using high-sensitivity Western blots. Band 3 and ankyrin genes were excluded as candidate genes by linkage studies, and nucleotide sequencing of band 3 cytoplasmic domain cDNA revealed no alteration. In contrast, protein 4.2 gene contained in the homozygous state a mutation at position 310: CGA-->CAA (Arg-->Gln). This mutation defining allele 4.2 Tozeur was co-inherited with the disease. The mRNA encoding the variant protein was normal in size and approximately normal in amount. Recombinant protein 4.2 Tozeur bound normally to red cell IOVs but disclosed an increased susceptibility to proteolysis in vitro. We infer that the nearly total absence of protein 4.2 in the patients results from imbalance between destruction and synthesis of mutated protein 4.2 prior to its binding to the membrane.

Resume La mucoviscidose est la maladie genetique la plus frequente dans la population europeenne. Elle est due a une anomalie au niveau du gene CFTR situe sur le bras long du chromosome 7. La forme la plus habituelle associe sur le plan clinique, une symptomatologie respiratoire (bronchopneumopathies recidivantes) et/ou une symptomatologie digestive (diarrhee chronique graisseuse) avec une stagnation ponderale. Le diagnostic repose sur le dosage du chlore sudoral et est confirme par une etude de l'ADN a la recherche de la mutation en cause. Toutefois, l'expression de la maladie reste tres variable d'un individu a l'autre, aussi bien sur le plan clinique que moleculaire. Nous rapportons une observation particuliere de la mucoviscidose, avec un test de la sueur normal, porteuse de la mutation I 148 T a l'etat heterozygote non rapportee auparavant dans la population tunisienne, associee a une hypogammaglobulinemie et un deficit en sous-classes d'IgG et en IgA.

Hemoglobin (Hb) Hope is a beta-globin chain variant with reduced oxygen (O₂) affinity, known to induce anemia. This usually leads to limitations in O₂uptake (VO₂) and exercise tolerance. We studied the case of a high-level female athlete with Hb Hope. She had been selected for cross-country races from 13 yrs onward, then was a national junior champion in 400-m race, and finally failed to win any cross-country races as an adult. Hematological analysis revealed normal red blood cell indices and Hb level (12.3 g.dL⁻¹). Incremental exercise showed peak work rate (WR), VO(2max) and gas exchange threshold (GET) within normal ranges for healthy females. Constant WR testing at 90% of GET showed that kinetics of pulmonary VO₂included the presence of a slow component. This was in disagreement with the data on VO₂kinetics response to exercise intensities below GET. Phase 2 parameters, time constant (τ2, 31 s), time delay (TD2, 39 s), amplitude (A2, 780 ml.min⁻¹), and gain in VO₂(ΔVO₂ .ΔWR-1, 9.2 ml.min-1.W⁻¹) were within normal ranges. Phase 3 showed a slow component similar to that reported in severe exercise. The absence of anemia and the normality of phase 2 suggested normal O₂delivery and oxidative metabolism in exercising muscles. In contrast, phase 3 suggested poor aerobic capacity and limited exercise tolerance. However, the lack of symptoms during testing also suggested that the slow component was due to the specific recruitment of fast-twitch fibers in this former champion athlete with Hb Hope in races requiring mainly anaerobic metabolism.

Hb Bab-Saadoun which has a Leu----Pro substitution at position 48 of the beta chain was detected in a young Arabian boy living in Tunisia. His parents did not have the variant which suggests that it occurred as a spontaneous mutation. The substitution is located in the interhelical CD segment; leucine at beta 48 is an invariable amino acid that may be important as part of a spacer sequence between the two helices and its replacement by proline may affect the stability of the hemoglobin molecule. Hb Bab-Saadoun is unstable in heat and isopropanol stability tests and its chain was best isolated by parachloromercuribenzoate precipitation. It appears unlikely that the presence of Hb Bab-Saadoun results in a hemolytic anemia.

Unlike the other haemoglobinopathies, few researches have been published concerning alpha-thalassaemia in Tunisia. The aim of the present work is to acquire further data concerning alpha-thalassaemia prevalence and molecular defects spectrum in Tunisia, by collecting and studying several kinds of samples carrying alpha-thalassaemia. The first survey conducted on 529 cord blood samples using cellulose acetate electrophoresis, have displayed the prevalence of 7.38% Hb Bart's carriers at birth. Molecular analyses were conducted by PCR and DNA sequencing on 20 families' cases from the above survey carrying the Hb Bart's at birth and on 10 Hb H diseased patients. The results showed six alpha-globin gene molecular defects and were responsible for alpha-thalassaemia: -alpha(3.7), - -(MedI), alpha(TSaudi), alpha(2)(cd23GAG-Stop), Hb Greone Hart: alpha(1)(119CCT-TCT) corresponding to 11 genotypes out of which two are responsible for Hb H disease (- -(Med)/-alpha(3.7)) and (alpha(TSaudi)alpha/alpha(TSaudi)alpha) and a newly described polymorphism: alpha+6C-G. The geographical repartition of alpha-thal carriers showed that the -alpha3.7 deletion is distributed all over the country, respectively the alpha(HphI) and alpha(TSaudi) seem to be more frequent in the central region of the northeast region. The haematological and clinical data showed a moderate phenotype with a late age of diagnosis for Hb H disease. This work had permitted, in addition to an overview on alpha-thalassaemia in the country, the optimization of protocols for alpha-thalassaemia detection in our lab, allowing further investigations concerning phenotype-genotype correlation in sickle cell disease or beta-thalassaemia.

We analyzed the mutations present in 19 patients with beta-thalassemia major, in 11 patients with Hb S-beta-thalassemia, and the beta S haplotypes of 34 patients with sickle cell anemia. The study included 84 relatives. Dot-blot analysis of amplified DNA with various specific oligonucleotide probes identified 11 different known beta-thalassemia mutations and frameshifts; a new frameshift at codons 25/26 (+T) was detected through sequencing of amplified DNA. The common beta-thalassemia mutations at codon 39 (C----T) and at IVS-I-110 (G----A) were also most prevalent among the Tunisian patients, while the milder T----C mutation at IVS-I-6 was not found. All mutations cause a beta 0-thalassemia or a severe beta + -thalassemia [T----A at -30; IVS-I-5 (G----A); IVS-I-110 (G----A)] which explains the need for regular blood transfusions in the thalassemia major and S-beta-thalassemia patients. Nearly all sickle cell anemia patients carried the beta S mutation on a chromosome with haplotype 19 (or Benin) and all had severe anemia with sickling complications. Identification of the beta S haplotype was through dot-blot analysis with oligonucleotide probes that detect mutations in the G gamma and A gamma promoter sequences, specific for this haplotype.

Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11 to 14 years. Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured. The IPP combines the analysis of protein variations: protein results are converted in percent of normal values referenced for the technique used. It has been suggested that on the protein profile, an increase in serum transferrin level compared to a normal serum albumin level (DAT: difference albumin-transferrin), appears early in the course of ID. Iron deficiency was defined by a low serum ferritin (15 ng/mL) and/or a pathologic DAT (28%). Approximately, 33.8% of children had Ft15 ng/mL and 12,8% had DAT28% while ferritin values were in the normal range. Diagnosis performance (sensitivity, specificity and diagnosis efficacy) of ferritin and DAT were compared to the performance of high serum transferrin receptor (sTfR) values in 2 populations presenting or not a biological inflammation. Only the diagnosis efficacy of DAT was constant in both situations. In conclusion, the serum ferritin concentration is the first indicator of body storage iron identifying ID, however normal or elevated values of ferritin may be difficult to interpret particulary in the presence of inflammation. sTfR and DAT values are thus reliable indicators of ID in such circumstances.

Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to implement the study of the different mutations in the CFTR gene where over 1,300 mutations were reported. Herein, we describe the strategy used to detect molecular defects responsible of cystic fibrosis on 390 children (383 families) in Tunisian population. Several techniques were performed for genotype diagnosis: DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and polyacylamide gel electrophoresis, and reverse dot blot procedures were used to detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were used in a next step searching for the unknown point mutations that are later identified by automated sequencing on ABIprism 310. This strategy allowed us to detect 17 different mutations located on the different exons of the CFTR gene. The most frequent was the F508del (50.74%) followed by three other mutations (G542X, W1282X and N1303K) known to be common in the Mediterranean area. For mutations (T665S, 2766 del8, F1166C, L1043R) were exclusively found, up to now, in the Tunisian population. Our results permitted to establish cystic fibrosis mutations and their distribution in Tunisia and to implement an appropriate prevention program of these diseases through the genetic council and prenatal diagnosis.

The hemoglobin Hope was discovered in a Mauritanian family that comes from Gorgol in the southwest of the country. The family belongs to the Soninke ethnic group, which is one of the black population groups in Mauritania. Along with this abnormal hemoglobin, HbS and beta-thalassemia were also found. This family, which we refer to as D, was encountered during a survey we conducted to study hemoglobinopathies in Mauritania. First the father was identified to carry an association of HbS and HbHope, then the study was extended to the entire family members: the wife who was found to have a beta-thalassemia trait and their three children who were found to carry HbS/beta-thalassemia mutations each. All together this family carries three different mutations that resulted in a double compound heterozygosity HbHope/HbS and HbS/beta-thal.

The Mauritanian population consists of two main groups: one Arab and Berber population and one of Black African origin. The latter includes five ethnic groups: Pular, Soninke, Black Maurs, Wolof, and Bambara. Abnormal HbA2 was found in the Mauritanian population and was characterized by cellulose acetate electrophoresis at pH 8.4 followed by DNA analysis. Among 785 subjects examined, 17 were carriers of HbA2' corresponding to 2.16 percent. The highest frequency was observed among the Pular (3.09 percent), the Black Maurs (2.72 percent), the Wolof (2.27 percent), and the Soninke (2.04 percent).

The improvement of the conditions of care and quality of life of people living with drepanocytosis now constitutes a major concern of health authorities and voluntary groups (associations of sick people and their parents). In order to examine the conditions and methods of care for children living with drepanocytosis in the Bizerte region of Northern Tunisia and to understand the problems and difficulties experienced by them and their families in their daily lives, an anthropological study was carried out in the region between January 16 and February 12, 1997. Thirty-three interviews were carried out with families of infected children. The interviews were semi-directive using a pre-established protocol (interview guide). Thirty interviews were then analysed. A multitude of information concerning various medical and psycho-social aspects of drepanocytosis in the region were revealed. The data were regrouped into the following categories: circumstances of discovering the illness; explicative model of the illness as perceived by the people interviewed; conditions and methods of care of the sick child; degree of satisfaction with the health care system; psychological profile of the children interviewed; educational level of the children interviewed; repercussions the illness has on the family; impact of the illness on household budget; suggestions and comments of the people interviewed. In light of the information collected, various actions have been proposed with the goal of improving the conditions of care and quality of life of people living with drepanocytosis in the region.

To test the hypothesis that HbOARAB induces an increase in red cell mean corpuscular haemoglobin concentration (MCHC), we studied members of four Tunisian families who were either homo- or heterozygous for HbOARAB or were double heterozygotes for HbS and HbOARAB. The alpha-gene status was also tested. The findings included: (1) Distinctive variation in red cell density (MCHC) as determined by separation of red cells on isopycnic gradients: (a) All red cells from patients homozygous for HbOARAB were denser than normal red cells, as is observed for homozygous HbC patients. (b) In patients heterozygous for HbOARAB, red cell density was strongly influenced by the presence of alpha-thalassaemia. The coexistence of -alpha/alphaalpha resulted in an average red cell density slightly greater than normal (AA) red cells. Patients heterozygous for HbOARAB with a normal complement of four alpha genes had denser red cells similar to sickle cell disease with some cells of normal density but with most cells very dense. (c) Finally, the double heterozygotes for HbS and HbOARAB had significant haemolytic anaemia and red cells denser than normal with some as dense as the densest cells found in sickle cell anaemia. (2) Reticulocytes in patients homozygous for HbOARAB were found in the densest density fraction of whole blood. (3) Cation transport in patients homozygous for HbOARAB was abnormal, with K:Cl cotransport activity similar to that of HbS-Oman and only somewhat lower than in sickle cell anaemia red cells. The activity of the Gardos channel was indistinguishable from that found in HbS, HbC and HbS-Oman cells. We conclude that the erythrocytic pathogenesis of HbOARAB involves the dehydration of red cells due, at least in part, to the K:Cl cotransport system. The similarity of the charge and consequences of the presence of both HbC and HbOARAB, which are the products of mutations at opposite ends of the beta-chain, raises the possibility that this pathology is the result of a charge-dependent interaction of these haemoglobins with the red cell membrane and/or its cytoskeleton and that this abnormality is present early in red cell development.

Antiphospholipid antibodies were investigated in 37 individuals with sickle cell disease and compared to a control group of 30 healthy subjects. Sickle cell patients included 18 homozygous sickle cell patients, 8 S/beta thalassemic patients and 11 sickle cell trait subjects. In all individuals, antiphospholipid antibodies were explored by lupus anticoagulant (LA) detection and the quantification of IgG and IgM anticardiolipin (aCL) isotypes, total antiphospholipid antibodies (APA) and IgM, IgG and IgA antiphospholipid classes. In homozygous sickle cell patients, mean level of IgG aCL and total APA were significantly increased (17.02 +/- 8.88 GPL/ml, p0.05 and 10.64 +/- 10.58 UPL/ml, p0.05 respectively). The IgG aCL, total APA and LA frequencies were 22.2%, 44.4% and 62.2%, respectively. APA isotypes were mostly IgG or IgG and IgA. In S/beta thalassemic patients, mean levels of APA were significantly increased (10.81 +/- 7.82 UPL/ml, p0.05). Their frequency was 71.4% and they were mostly IgG or IgG and IgA. In patients with sickle cell trait, mean levels of APA were significantly increased (10.84 +/- 5.84 UPL/ml, p0.01). Their frequency was 72.7% and mostly of IgG isotype. Our study showed a close association between high APA levels and sickle cell syndrome, however there was no relationship between high levels of antiphospholipid antibodies and the major complications of sickle cell disease.

The fibrinolytic potential was evaluated in 37 patients with homozygous sickle cell disease and compared to a control group of 30 age- and sex-matched healthy volunteers. In all individuals, the euglobulin clot lysis time and plasma antigen levels of t-PA and PAI-1 were measured before and after venous occlusion (v.o) for 10 min. The global fibrinolytic activity was normal in 4 patients (good responders to v.o), while it was decreased in 33 patients (poor responders to v.o). Among the latter, 22 patients had significantly increased baseline levels of PAI-1 Ag (82.6 ± 27.5 ng/ml, p < 0.001) and a normal release of t-PA Ag after v.o. In contrast, 11 patients had basal values of PAI-1 Ag comparable to those in controls with a defective release of t-PA Ag after v.o (11.4 ± 5.2 ng/ml, p < 0.01). These data provide evidence for reduced fibrinolytic capacity resulting from either increased basal levels of PAI-1 or defective release of t-PA.

Abnormalities of coagulation and fibrinolysis were studied in a group of 28 children and young adults with homozygous sickle cell disease (SCD), either in the steady state (n = 12) or during painful crisis (n = 16). Coagulation was explored by standard clotting tests and by measurement of prothrombin complex factors, factor VIII (VIII:C) and antithrombin III (ATIII), protein C (PC) and protein S (PS) activities, while fibrinolytic potential was evaluated using D-dimer, tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) assays. In SCD patients, thrombin time (TT) was constantly shortened, both in the steady state (ratio to control 0.83 ± 0.08, p < 0.0001) and in crisis (0.76 ± 0.06, p < 0.0001). Mean levels of prothrombin complex were similar in asymptomatic patients to those in controls, but were significantly decreased during sickle cell crisis (p < 0.05 for factor V and p < 0.0001 for factors II,VII and X). Factor VIII:C was significantly increased, both in the steady state (207 ± 35%, p < 0.0001) and during crisis (208 ± 34 %, p < 0,0001). PS activity was reduced in the steady state (81 ± 12%, p < 0.01) and further diminished in crisis (68.5 ± 27.5%, p < 0.001), while D-dimers were significantly elevated during sickle cell crisis (1028 ± 675 ng/ml, p < 0.001). In all SCD patients, baseline levels of t-PA antigen were comparable to those in controls, whereas concentrations of PAI-1 antigen were significantly increased, either in the steady state (89.7 ± 26.3 ng/ml, p < 0.0001) or in crisis (75.0 ± 24.8 ng/ml, p < 0.0001). These results provide evidence for the presence of circulating activated clotting factors in SCD and for an imbalance of the profibrinolytic and antifibrinolytic systems most likely due to increased PAI-1 levels.

Glycated hemoglobin A1c assay is performed using HPLC on cation exchange TSK SP 5 PW column. Separation is obtained in 10 minutes using graduated elution with sodium chloride and Bis-Tris buffer. Hb A1c is resolved from the other hemoglobins (F, A0 and S). Reproductibility of method is quite good and correlated with an immunologic method (DCA 2000).

Thirty Tunisian patients with a voluminous multinodular goiter with cold nodules and inhabiting a region of mild iodine deficiency, have been studied. The 131 I fixation by the thyroid, three hours after ingestion was significatively higher than in normal population. Fourty six per cent of the patients have stable iodine urine contents less or equal to 0.39 mumol/L. Three serum concentrations were paradoxically abnormal: thyrotropin (TSH), thyroglobulin (TG) and gammaglobulin concentrations. Fourty seven per cent of the serum thyrotropin (TSH) levels were less than the normal values though the serum total triiodotyronine (TT3), tetraiodotyronine (TT4), free triiodotyronine (FT3), free tetraiodotyronine (FT4), antithyroglobulin antibodies, total protein, triglycerides and cholesterol concentrations were normal. Serum thyroglobulin (TG) rates were elevated, ranged from 2 to 10,180 ng/ml and twenty five per cent of our patients showed levels greater than 500 ng/ml. The gammaglobulin levels were greater than normal in sixty eight per cent of our patients though only 10% of our patients manifest antithyroglobulin antibodies.

We performed a study of hemoglobin in 700 blood donors attending the Centre Hospitalier National de Nouakchott in Mauritania. We detected 116 cases of anomalies corresponding to a global prevalence of 16.6%. The analysis of the samples studied showed that 72.3 % of the donors were Blacks and 28.7 % were White Maurs ( Maures blancs). In the Black population the prevalence of hemoglobinopathies is 21.44% whereas among the White Maurs it is 4.47%. In this study, the six ethnic groups that constitute the Mauritanian population were also represented in the sample, but with different numbers. We noted some differences in the repartition of anomalies among these groups. The hemoglobin anomalies that were found are sickle cell anemia, beta-thalassemia, and delta-variant, all in heterozygous form. Geographical repartition revealed that the hemoglobin abnormalities are mostly encountered in the Southeast and the Southwestern parts of the country, which could be considered areas of high risk for hemoglobinopathies.

Eleven cases of simultaneous HbC hemoglobinopathy and beta-thalassemia were detected during a study of 11,200 subjects at high risk for inherited hemoglobin anomalies. In seven cases, main clinical manifestations were anemia and enlargement of the spleen, whereas the four other patients were apparently free of symptoms and were diagnosed during routine tests in family members of affected patients. Microcytosis and hypochromia were found in every case. Most of the patients were from the North-Western part of Tunisia. Blood transfusions were required in only one patient, who was an infant with HbC/beta + thalassemia.

A nine-year-old boy from Béjà (North-Western Tunisia) was found to have both HbD Iran and beta-thalassemia. This patient presented with anemia and slight enlargement of the spleen and had a history of acute episodes of hemolysis. Structural studies on this hemoglobin variant used several miniaturized techniques, mainly carboxy-methyl-cellulose chromatography, reverse-phase high performance liquid chromatography and manual peptide sequencing using Chang's technique. The glutamic acid in position 22 on the beta chain was found to be replaced by a glutamine, establishing the diagnosis of HbD Iran. Concomitant presence of a thalassemia trait was suggested by the finding in the index patient of microcytosis, hypochromia and increased HbA2. The family study confirmed this patient's combined heterozygous anomalies, showing the D trait in the father and the beta thalassemia trait in the mother. The same combination was found in the index patient's sister who was, however, free of clinical symptoms. The explanation of this difference in clinical expression was provided by the ADN study which disclosed deletion of an alpha gene in the girl. The resulting alpha chain deficiency counterbalanced the beta chain deficiency.

We have determined the beta S haplotypes in 709 patients with sickle cell anemia, 30 with SC disease, 91 with S-beta-thalassemia, and in 322 Hb S heterozygotes from different countries. The methodology concerned the detection of mutations in the promoter sequences of the G gamma- and A gamma-globin genes through dot blot analysis of amplified DNA with 32P-labeled probes, and an analysis of isolated Hb F by reversed phase high performance liquid chromatography to detect the presence of the A gamma T chain [A gamma 75(E19)Ile----Thr] that is characteristic for haplotype 17 (Cameroon). The results support previously published data obtained with conventional methodology that indicates that the beta S gene arose separately in different locations. The present methodology has the advantage of being relatively inexpensive and fast, allowing the collection of a vast body of data in a short period of time. It also offers the opportunity of identifying unusual beta S haplotypes that may be associated with a milder expression of the disease. The numerous blood samples obtained from many SS patients living in different countries made it possible to compare their hematological data. Such information is included (as average values) for 395 SS patients with haplotype 19/19, for 2 with haplotype 17/17, for 50 with haplotype 20/20, for 2 with haplotype 3/3, and for 37 with haplotype 31/31. Some information on haplotype characteristics of normal beta A chromosomes is also presented.

A four-year-old boy admitted for fever and a skin rash was diagnosed as having a rickettsial infection. Regenerative microcytic anemia and enlargement of the spleen were also found. Hemoglobin electrophoresis and a family study disclosed a combination of two heterozygous hemoglobinopathies, i.e., HbO Arab and beta-thalassemia. A male sibling had the same anomalies as the index patient and was free of symptoms.

We report two cases of intermediate beta-thalassemia diagnosed at the age of 2 years and 3 1/2 years respectively. Characteristic features of this disease include delayed onset, moderate blood transfusion requirements, and frequent development of hypersplenism. Major iron overload develops even in patients who have received no transfusions. This disease is further characterized by significant genetic heterogeneity and by a reduction in the imbalance between produced chains and deficient chains.

The way in which bones are affected in cases of sickle-cell anemia is well known. Nevertheless, advances in treatment and in methods of transfusion mean that we are increasingly seeing cases of older patients with this disease. A retrospective analysis of 222 cases of sickle-cell anemia demonstrates the radiological appearance of the skeleton in the disease and reveals the various bone segments which are particularly vulnerable at certain periods of life. Correlation of X-rays permits the discovery of lesions which are not clinically apparent. The frequency and characteristics of epiphyseal osteonecrosis and osteitis are studied. Aggravation of the bone lesions when corticoids are administered poses the problem of differential diagnosis of the disease, especially in comparison with rheumatic fever.

(1985). Some Data on the Epidemiology of Hemoglobinopathies in Tunisia. Hemoglobin: Vol. 9, No. 4, pp. 423-429.