Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.

BACKGROUND: Sickle Cell Anemia (SCA) is the most common genetic disease worldwide caused by a single mutation in the gene HBB. The disease severity is very variable and depends on many factors. We evaluated the clinical and biological profile of sickle cell anemia children in rural Central Africa. METHODS: This cross-sectional study was conducted in the Hôpital Saint Luc de Kisantu, located 120 km away from Kinshasa-DR Congo in an area of 35 km around Kisantu with a population of roughly 80 000 individuals. We included SCA patients aged 6 months to 18 years. We collected clinical and hematological data. The SCA scoring system proposed by Adegoke et al. in 2013 was applied to determine the disease severity. We searched for factors associated to the disease severity. RESULTS: This study included 136 patients, 66 males and 70 females (sex-ratio M/F 0.94). The mean severity score was 8.21 ± 5.30 (ranges 0-23). Fifty-nine (43.4%) children had mild disease, 62 (45.6%) moderate and 15 (11%) severe disease. Girls had higher levels of HbF than boys (p = 0.003). An inverse correlation was observed between fetal hemoglobin and the disease severity (p = 0.005, r -0.239, IC95% -6.139; -1.469). Some factors such age influence the occurrence of certain chronic complications such as avascular bone necrosis. CONCLUSION: In conclusion, the disease severity of SCA depends on multiple factors. In this study, fetal hemoglobin was the main modulator of the disease severity. These data may also serve as a baseline to initiate HU treatment in this setting.

Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.

BACKGROUND: Sickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a uniform response to hydroxurea may not be attained. In view of a potential treatment with hydroxyurea (HU), we assessed the variability of clinical and hematological manifestations in a cohort of adults with SCA in Kinshasa, capital of the DR Congo in Central Africa. METHODS: A cross-sectional study was conducted in a hospital dedicated to SCA management in Kinshasa. Clinical history of patients was recorded, a complete physical examination performed. The diagnosis was confirmed by means of DNA analysis. A full blood count and hemolysis markers were measured. The severity of the disease was evaluated by means of a previously reported score. RESULTS: The study group consisted of 166 genetically confirmed SCA patients. The SCA severity was mild in 28.9%, moderate in 64.5% and severe in 6.6%. The disease severity score increased with patient's age (p ≤ 0.001). The severity was higher in males compared to females (p = 0.012). In males, the severity score was correlated with the presence of priapism (p = 0.045), a manifestation not previously incorporated in the severity score. The severity score was inversely correlated with the fetal hemoglobin (HbF) rate (p = 0.005). Malnutrition (BMI <18.5 kg/m2) was present in 47% of patients and was related to the male sex, hip disease (aOR 3.11; p = 0.019) and severe phenotype (aOR 3.53; p = 0.012). Leg ulcers were more frequent in males than in females (p = 0.001; OR 24.3) and were correlated with the number of days of hospitalization (p = 0.029). Hip disease was related to the increasing age (p = 0.008). CONCLUSION: In this selected, hospital-based populations of adults with SCA, severe disease was rare, which may be due to survival bias. However, two thirds had moderate severity of the disease, mostly with a low HbF, and they may benefit from HU treatment. In the Central-African setting the separation between vaso-occlusive and hyperhemolytic sub-phenotypes was not applicable.

DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.

BACKGROUND: Hemoglobin-based tests form the reference diagnostic test for SCA. In limited resource countries, these tests face limitations including cost, low sensitivity due to recurrent transfusions in endemic malaria region, and interference from fetal hemoglobin in neonatal diagnostic. This study aimed at adapting DNA-based SCA tests to limited resource countries and evaluating the economic benefit. METHODS: 338 participants were recruited in the Democratic Republic of Congo, sorted in 3 cohorts based on venous blood, umbilical cord blood (UCB) and buccal swab sampling. RFLP was performed to identify mutated allele. The feasibility and technical validity of this RFLP was evaluated for specimens collected on DBS cards and on EDTA tubes. RFLP on DBS stored at room temperature was regularly repeated to assess sample conservation. Finally, the cost analysis was performed. RESULTS: DBS cards yielded identical results to extracted DNA. Repeated testing returned the same result after four years. The DBS-based test performed on UCB or on buccal swab had a sensitivity and a precision of 100%. Cost comparison indicated that our approach costs half price of the widely used isoelectrofocussing of hemoglobin. CONCLUSION: The implemented DNA-based test approach overcomes the limitations faced by hemoglobin-based tests, while being more affordable. We propose to implement the RFLP test as a first line diagnostic test after transfusion and as second tiers for newborn screening. However, users should be aware that this test is unable to differentiate HbC from HbS or identify other point mutation of gene deletion of HBB gene.

Anesthésie-réanimation pour chirurgie cardiaque pédiatrique : faisabilité et résultats de notre première expérience en R.D. Congo

Contexte et objectif. Dans le cadre des 3 missions organisées par l?association des anciens de la faculté de médecine de l?université de Kinshasa, en République Démocratique du Congo, nous avons opéré des enfants porteurs d?une persistance du canal artériel (CA). Les objectifs de cet article étaient de rapporter notre première expérience de la chirurgie cardiaque pédiatrique dans notre pays, et d?évaluer nos résultats sur la qualité de la prise en charge pré-, per- et post-anesthésique de ces premiers patients opérés par nos soins.Méthodes. Il s?agit d?une étude documentaire descriptive type série de cas. Tous les patients opérés pour persistance du canal artériel aux cliniques universitaires de Kinshasa de novembre 2013 à novembre 2014 ont été inclus. Le protocole d'anesthésie était le même pour tous les patient. Les données pré-, per- et post-anesthésiques, ainsi que les résultats chirurgicaux obtenus ont été recueillies de façon prospective.Les critères utilisés pour évaluer la qualité de l'anesthésie étaient ceux proposés par la société française d?anesthésie-réanimation. La saisie et l?analyse des données ont été réalisées à l?aide du logiciel Excel. Les variables quantitatives sont décrites en moyenne et valeurs extrêmes et celles qualitatives en fréquence et pourcentage.Résultats. Au total, dix enfants ont été opérés. L?âge moyen était de 54 mois (extrêmes : 8 mois ­ 16 ans). Leur traitement médical pré-op comprenait essentiellement les IEC (5cas), les diurétiques (2 cas) et les digitaliques (2 cas). Les facteurs de risque préopératoires retrouvés dans notre série étaient la dénutrition (1 cas) et l?anémie (2 cas).Le geste chirurgical a consisté à une ligature (8 cas) ou à une section (2 cas) du CA, par une thoracotomie postérieure gauche. La durée moyenne d?intervention a été de 78 min (extrêmes 65 et 120 min). Les paramètres hémodynamiques et respiratoires peropératoires de nos patients sont restés stables durant la totalité du temps chirurgical à l?exception d?une patiente qui a présenté un saignement abondant (500 ml) suite à un déclampage intempestif sur un des moignons du canal artériel. Pour tous les autres patients, le saignement peropératoire a été minime, voire absent. Dans 9 cas sur 10, l?extubation était réalisée en fin d?intervention.En post-opératoire, l?analgésie était satisfaisante avec des scores d?EVS inférieur à 2 chez 8 patients. La première boisson était possible dans un délai moyen de 6 h sans fausse route, sans nausée ni vomissements. Trois cas d?infection superficielle de site opératoire ont été relevés et traitées avec succès par des soins locaux. La durée moyenne de séjour en réanimation était de 3,85 jours (extrêmes : 2 et 8 j) et la durée totale d?hospitalisation de 7,6 jours (extrêmes : 7 et 13 j). Aucun décès n?a été déploré.Conclusion. Cette étude démontre la faisabilité de l'anesthésie pour fermeture du CA dans notre pays avec une bonne qualité d?anesthésie et de bons résultats chirurgicaux. Avec plus de moyens à notre disposition, nous pourrons étendre notre activité à toute la chirurgie cardiaque adulte et pédiatrique sous circulation extracorporelle. C?est cela notre but ultime

Childhood Tuberculosis in a Sub-Saharan Tertiary Facility: Epidemiology and Factors Associated with Treatment Outcome.

Childhood tuberculosis (TB) is a diagnostic challenge in developing countries, and patient outcome can be influenced by certain factors. We report the disease course, clinical profile and factors associated with treatment outcome in a tertiary facility of Kinshasa. Documentary and analytical studies were conducted using clinical and exploratory data for children aged up to 15 years who were admitted to the University Clinics of Kinshasa for TB. Data are presented as frequencies and averages, and binary and logistic regression analyses were performed. Of 283 children with TB, 82 (29.0%) had smear-negative TB, 40 (14.1%) had smear-positive TB, 159 (56.1%) had extra-pulmonary TB (EPTB), 2 (0.7%) had multidrug-resistant TB (MDR-TB), 167 (59.0%) completed treatment, 30 (10.6%) were cured, 7 (2.5%) failed treatment, 4 (1.4%) died, 55 (19.4%) were transferred to health centers nearest their home, and 20 (7.0%) were defaulters. In the binary analysis, reported TB contacts (p = 0.048), type of TB (p = 0.000), HIV status (p = 0.050), Ziehl-Nielsen test result (p = 0.000), Lowenstein culture (p = 0.004) and chest X-ray (p = 0.057) were associated with outcome. In the logistic regression, none of these factors was a significant predictor of outcome. Tertiary level care facilities must improve the diagnosis and care of patients with childhood TB, which justifies the development of alternative diagnostic techniques and the assessment of other factors that potentially affect outcome.

Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.

Patients with Williams-Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on a Congolese boy with typical WBS facial characteristics. He suffered meningitis and coma at the age of 2 years then subsequently presented with profound intellectual disability and atypical behavior. The WBS was only made at age 8.2 years and confirmed with FISH testing and microarray-CGH. The present report aims to warn clinicians that infections may associate and/or modify a genetic disease as this may be observed in developing countries given the prevalence of infectious diseases.

Nephrotic Syndrome in a Child Suffering from Tetralogy of Fallot: A Rare Association.

Nephrotic syndrome is an uncommon complication of tetralogy of Fallot and has been rarely reported in pediatric population. We describe a 4-year-old female Congolese child who was referred for investigation for persistent dyspnea, edema, and cyanosis and nephrotic range proteinuria. Our patient presented with a tetralogy of Fallot and nephrotic syndrome. Conclusion. This case reminds us that children with tetralogy of Fallot may develop nephrotic proteinuria.