ABSTRACT
Background: Homozygous sickle cell disease (HSCD) is the most common inherited blood disorder of public health importance worldwide, with Sub-Saharan Africa accounting for a third of the global burden. The effect of HbS on the kidneys results in sickle cell nephropathy, which contributes to increased mortality among HbSS patients beyond third decade of life. Glomerular filtration rate (GFR) is an important renal function test for evaluating progress of sickle cell nephropathy, however, this is seldom done to HbSS patients especially in the insurgency that devastated the North-eastern part of Nigeria, where displacement of people has led to increase in diarrhoeal diseases with its complications which also contributes to renal diseases, hence the need for this study. Objective: To determine the baseline glomerular filtration rate of homozygous SCD in steady state and compare same with normal controls. Methods: This is a prospective comparative study conducted at the University of Maiduguri Teaching Hospital (UMTH). The study population consisted of age and sex matched HbSS subjects in steady state and children with haemoglobin AA genotypeaged 3-14 years. The study was conducted over a period of 6 months. Anthropometry and serum creatinine of the subjects were determined and GFR calculated using Schwartz formula. Results: Two hundred and twenty children consisting 110 HbSS and 110 controls were enrolled. This consist of 106 males and 114 females with M:F ratio of 0.9:1. Mean ages of HbSS patients and HbAA subjects were 8.2years and 7.9 years respectively. The mean GFR (SD) was 125.9 (31.9) ml/min/1.73m2 and 93.0 (16.1) ml/min/1.73m2 for the HbSS and HbAA controls, the difference between the means was significant (P<0.001). The normal GFR range for the controls was 77 to 109 ml/min/1.73m2. Sixty-seven (61%) casesand 86 (78%) controls had GFRs within normal range. There was statistically significant difference for GFRs above and below the normal range (Z-score=6.2 & -2.9, p<0.001 & p<0.004). Conclusion: About a third of HbSS children in steady state have elevated GFR, this suggests the presence of moderate renal pathology. Regular monitoring of these children will lead to improvements in management of sickle cell nephropathy and their quality of life
Subject(s)
Anemia, Sickle Cell , Glomerular Filtration Rate , Homozygote , Magnetic Resonance Imaging , NigeriaABSTRACT
Total serum protein, albumin, total globulin levels, albumin/globulin ratio as well as the various globulin fractions were determined in 96 subjects, 39 are sickle cell (SS) disease subjects (steady state), and 30 are heterozygous sickle cell (AS) trait and 27 normal control subjects. The mean standard deviation of total protein was significantly higher (P< 0.05) in sickle cell disease when compared with heterozygous AS and normal controls. There was also significant difference (P<0.05) between AS and AA. The albumin level in sickle cell disease was significantly higher than in the other two groups. There was hyperglobuneamia observed in SS individuals with a mean ±SD of 32.6±10.0g/L when compared with AS and AA subjects with a mean ±SD of 30.8± 5.9g/L and 26.7±6.2g/L respectively. There also exist a significant difference between AS and AA (P <0.005). The Albumin/Globulin ratio is significantly lower (P <0.05) in SS than the other two groups but there was no significant difference (P>0.05) observed between AS and AA controls. The globulin fractions were observed to be higher in AS individuals except the gamma globulin which is higher in SS subjects. The hyperproteineamia as a result of the hyperglobulineamia is due to the globulin fraction present in the serum of SS individuals. The AS individuals are protected from various infectious disease conditions because of the high acute phase reactants and ß- globulin present in their serum as these has been observed to exert some immunioregulatory role
Subject(s)
Anemia, Hypoplastic, Congenital , Blood Proteins , Homozygote , Serum Albumin , Sickle Cell TraitABSTRACT
Contexte : La drepanocytose dans sa forme homozygote touche environ 1 a 2de la population congolaise. Les crises drepanocytaires; parmi lesquelles les crises aigues anemiques (crises de deglobulisation); emaillent la vie permanente de ces patients. Peu d'etudes completes ont permis d'evaluer les etiologies de ces complications aigues. Le but vise par ce travail est de contribuer a l'amelioration de la prise en charge des drepanocytaires. Objectifs : Recenser differentes etiologies des crises de deglobulisation ; enumerer les differentes entites des crises ; apprecier a travers l'evolution le pronostic et enfin evaluer a court terme l'evolution de ces crises. Patients et methodes : il s'est agi d'une enquete essentiellement retrospective qui a permis d'inclure 205 patients hospitalises au terme d'une periode qui s'etale entre le 1er juillet 2002 et le 30 juin 2007. Cette enquete qui a collige 142 dossiers (malades repondant a des criteres rigoureux) a permis de retenir 55 patients de sexe masculin et 87 patients de sexe feminin; soit un ratio de 0;6. L'age moyen de ces patients a ete de 23 ans (avec des extremes de 3 ans a 49 ans). Resultats : L'enquete clinique et paraclinique a permis de retrouver les types de crises suivants : 98;6des crises aigues hyperhemolytiques; 0;7des crises de sequestration splenique et enfin 0;7des crises aigues aplasiques. Les principales etiologies qui ont pu etre recensees au cours de cette enquete sont : le paludisme dans 30;3des cas et les infections bacteriennes dans 62;7. Dans 22;5des cas; le germe responsable de ces infections n'etait pas isole du fait de l'insuffisance du plateau technique. Dans 5;6des cas; le tableau de crise aigue de deglobulisation avait ete retrouve chez des femmes enceintes. Le niveau socio-economique a ete le principal facteur favorisant. L'evolution clinique des malades a ete favorable dans la majorite des cas. Conclusion : Les crises aigues de deglobulisation restent des urgences chez le sujet drepanocytaire homozygote a cause du risque important de morbidite et de mortalite. Ces crises semblent survenir chez les patients drepanocytaires appartenant a la couche des patients demunis. Le paludisme et les infections bacteriennes semblent representer les principales etiologies. La prevention de ces infections permettra certainement de reduire l'incidence; voire la frequence de ce type de complications
Subject(s)
Anemia, Aplastic , Anemia, Sickle Cell , Homozygote , HypersplenismABSTRACT
La drepanocytose constitue un probleme de sante publique en Cote d'Ivoire. Elle est responsable d'une morbidite importante qui impose une prise en charge medico-sociale reguliere a vie. Le but de cette etude est de preciser le profil evolutif et les caracteristiques de prise en charge de la forme homozygote SS.Pour cela 162 cas hospitalises dans notre service sur une periode de 10 ans (1990 a 1999) ont permis de tirer certaines conclusions :- L'age des patients varie de 2 a 38 ans; avec un age moyen de 14.6 ans; un ecart type de 8.8 ; un sex-ratio de 1.13 ; une predominance des groupes ethniques Kwa et Mande; ainsi que des eleves et etudiants ;- les crises sont toujours declenchees; et le plus souvent par une fievre d'origine palustre ;- on note une moyenne de 2 crises par an; et 2 hospitalisations par patient ;- la moyenne du taux d'hemoglobine (Hb) S est de 84.8et celle du taux d'Hb de 6.4 g/dl ;- l'age de prise en charge est tres variable (1 a 35 ans) et la duree de cette prise en charge se situe entre 1 et 5 ans dans plus de la moitie des cas. Le suivi medical est le plus souvent irregulier ;- des complications d'ordre anemique surtout (144 cas); infectieux (80 cas); ischemique (14 cas) ont ete notees ; de meme que 12 cas de deces; l'anemie aigue constituant la premiere cause de deces
Subject(s)
Anemia , Homozygote/epidemiology , MalariaABSTRACT
Molecular HLA class II typing of greater than 1700 individuals from The Gambia in West Africa and Malawi in South-Central Africa revealed a striking diversity of HLA DRB-DQB haplotypes as defined by restriction fragment length polymorphism (RFLP); this diversity is twice as extensive as that found in northern Europeans. Despite this diversity; sequence and PCR/oligonucleotide analysis showed that the recently described variant DRB1*1304 is the commonest DRB1 allele in The Gambia. The sequence; geographical distribution; and RFLP association of this allele; together with homozygosity test results; suggest that DRB1*1304 may have arisen from DRB1*1102 and have reached its remarkably high frequency as a result of recent directional selection. The prevalence of this unusual allele has implications for trials of subunit vaccines in this area. The extensive and distinctive HLA class II region polymorphism in sub-Saharan Africans is consistent with evidence from other genetic loci implying an African origin of modern Homo sapiens