ABSTRACT
The purpose of the present work was to show the place of hypertension in primary glomerulonephritis in adults. Hypertension was defined as diastolic blood pressure above 90 mmHg and renal insufficiency as serum creatinine above 135 mc mol/L. Secondary glomerulonephritis was excluded. The study was performed in 302 patients with primary glomerulonephritis biopsied between March 1994 and March 1996. They were 183 males and 119 females, aged from 16 to 63 years (mean: 29.8 years). The incidence of hypertension at the time of admission was 46.6%: 141/302 cases. The only consideration of prolonged hypertension (excluded transient hypertension of acute nephritic syndrome) shows an incidence of 31.4%: 95/302 cases (table). Frequency of hypertension (HT) in different types of primary glomerulonephritis (GN): [table: see text] The histological types observed in these cases of hypertension were represented essentially by the proliferative lesions: 73% (72/95 cases) who were grouped mainly in proliferative glomerulonephritis postinfectious and IgA nephropathy. No proliferative lesions: 24% (23/95 cases) were especially represented by focal segmental sclerosis. Renal insufficiency noted in 69 cases on 95 hypertensions was probably the result of the parallel evolution of hypertension renal lesions and those belonging to these histologic types. In conclusion, this study shows a narrow correlation between the hypertension and proliferative glomerulonephritis in our young adults population.
Subject(s)
Glomerulonephritis/complications , Hypertension/complications , Adolescent , Adult , Biopsy , Blood Pressure , Creatinine/blood , Female , Glomerulonephritis/epidemiology , Glomerulonephritis/pathology , Humans , Kidney/pathology , Kidney Failure, Chronic/complications , Kidney Failure, Chronic/physiopathology , Male , Middle AgedABSTRACT
Using micro-methods, we have phenotyped 3590 and 688 Algerians for the KEL and XG systems respectively. The gene frequencies were estimated for each of the 26 "wilayas" (regions) of the country. The KEL*K allele shows a heterogeneous distribution throughout the regions (frequencies ranging from 0.0269 to 0.0678) with no evident gradient, although within the caucasoid range. The XG*a frequencies in the wilayas range from 0.3150 to 0.7778 following an increasing south-north cline, thus confirming the intermediate status of Algeria between Europe and Africa.
Subject(s)
Blood Group Antigens/genetics , Gene Frequency , Kell Blood-Group System/genetics , Adult , Algeria , Haplotypes , Humans , Male , PhenotypeABSTRACT
The electrophoretic mobility and level of enzyme activity of glucose-6-phosphate dehydrogenase (G6PD) was established in 100 unrelated Algerian males with G6PD deficiency. DNA from these subjects was analysed for the presence of certain known G6PD mutations by the appropriate restriction enzyme digestion of fragments amplified by the polymerase chain reaction. Where the mutation could not be identified in this way, the samples were subjected to single-strand conformation polymorphism analysis and abnormal fragments were sequenced. In this way, eight different mutations have been identified, of which five are polymorphic and account for 92% of the samples. The most common variants are G6PD A- (46%) and G6PD Mediterranean (23%), both of which were associated with favism. A new polymorphic variant, G6PD Aures, has been identified during the course of this study, whereas another, G6PD Santamaria, has now been established as a polymorphic variant (11%). Thus, G6PD deficiency in Algeria is heterogeneous, suggesting that there has been significant gene flow, both from sub-Saharan Africa and from other parts of the Mediterranean.
Subject(s)
Genetic Heterogeneity , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Point Mutation/genetics , Polymorphism, Single-Stranded Conformational , Algeria , Base Sequence , DNA Mutational Analysis , Exons/genetics , Favism/genetics , Genetic Variation/genetics , Glucosephosphate Dehydrogenase Deficiency/blood , Glucosephosphate Dehydrogenase Deficiency/ethnology , Haplotypes , Humans , Male , Molecular Sequence Data , Polymorphism, Restriction Fragment LengthABSTRACT
Results of an epidemiological survey for beta-thalassemic defects involving 239 chromosomes in Algeria are analyzed in relation to the geographic and historical background of the country and are compared with published series for the Tunisian population. Four common mutations account for 81% of the chromosomes, but 13 other defects have been found, illustrating the highly heterogeneous nature of the disease in the northern African countries of the Maghreb. The high frequency of homozygous cases reflects the endogamous social structure of these populations. Distribution of the mutations and linkage to specific RFLP haplotypes provide information concerning their origin and date of introduction in good correlation with the anthropological history of Algeria.
Subject(s)
Genetics, Population , Heterozygote , Mutation , beta-Thalassemia/genetics , Algeria , DNA/analysis , Gene Amplification , Gene Frequency , Genetic Linkage , Genetic Testing , Homozygote , Humans , Multigene Family , Polymorphism, Restriction Fragment Length , TunisiaABSTRACT
An hemotypological study of the Algerian population has been carried out in the ABO, P and Lutheran systems. The red blood cell phenotyping by micromethods involved 4,444 subjects for the ABO system, 4,484 for the P system, and 4,303 for the Lutheran system. Gene frequencies were determined for each Wilaya of the country. In the ABO system, the values vary from 0.1315 to 0.2721 for A allele, from 0.0849 to 0.1615 for B allele, and from 0.6054 to 0.7388 for O allele. In the P system, the values of P1 gene vary from 0.5254 to 0.6201. In the Lutheran system, the values of Lua allele are not exceeding 0.0326. The Algerian population is generally characterised by a A gene of intermediate frequency between those of Caucasoïds and Negroïds, a B gene of frequency close to that of Negroïds, and O and P1 genes of frequencies close to those of Caucasoïds.
Subject(s)
ABO Blood-Group System/genetics , Gene Frequency , Lutheran Blood-Group System/genetics , P Blood-Group System/genetics , Adult , Algeria , Hemoglobins, Abnormal/genetics , Humans , MaleSubject(s)
Antithrombin III Deficiency , Blood Coagulation Disorders/blood , Protein C Deficiency , Protein S Deficiency , Thrombosis/blood , Adolescent , Adult , Algeria/epidemiology , Blood Coagulation Disorders/epidemiology , Humans , Predictive Value of Tests , Prevalence , Thrombosis/epidemiologyABSTRACT
We report here on the final results of an epidemiological survey involving 177 beta-thalassaemic chromosomes in Algeria. Four common mutations account for 86% of the chromosomes, the other ones carrying nine other rare mutations. Combination of these results with those of other smaller regional epidemiological studies indicates the existence of still a wider range of mutations. The nature and frequencies of these mutations, their linkage with RFLP-haplotypes, agree well with the history of the region. Knowledge of this spectrum of mutations enables the design of a diagnosis strategy that takes into account the local economical constraints.
Subject(s)
Mutation , beta-Thalassemia/genetics , Adolescent , Algeria/epidemiology , Child , Haplotypes , Humans , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , beta-Thalassemia/epidemiologySubject(s)
Favism/genetics , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Point Mutation , Amino Acid Sequence , Base Sequence , Child , DNA/genetics , DNA/isolation & purification , Erythrocytes/enzymology , Exons , Favism/blood , Favism/enzymology , Female , Glucosephosphate Dehydrogenase/blood , Glucosephosphate Dehydrogenase Deficiency/blood , Glucosephosphate Dehydrogenase Deficiency/enzymology , Humans , Kinetics , Male , Molecular Sequence Data , Polymerase Chain ReactionABSTRACT
When screening for the presence of major cystic fibrosis mutations in Algerian cystic fibrosis families by heteroduplex formation, aberrant heteroduplexes were observed for exon 10 in one family. Here we describe the clinical and molecular findings in a severely affected child of this family, homozygous for the 1609delCA and for the M470V polymorphism.
Subject(s)
Chromosome Deletion , Cystic Fibrosis/genetics , Exons/genetics , Homozygote , Membrane Proteins/genetics , Nucleotides/genetics , Polymorphism, Genetic/genetics , Algeria , Child, Preschool , Cystic Fibrosis Transmembrane Conductance Regulator , Female , Gene Amplification/genetics , Genetic Markers/genetics , Genetic Testing , Humans , Pedigree , Polymerase Chain ReactionABSTRACT
Behçet syndrome is a multisystem disorder characterized by ocular, mucocutaneous, articular, gastrointestinal and neurologic abnormalities. We report here an unusual case of Behçet syndrome, characterized by the importance of the thrombotic events (7 phlebitis of both legs and resection of two toes). Additional manifestations of the Behçet syndrome occurred only 10 years after the first thrombotic episode. The oldest daughter of the propositus and his brother suffered also from thrombophlebitis; this familial history of thrombosis led to the performance of a haemostatic study. A congenital protein S deficiency was found in the propositus and in three of his children. Normal protein S levels were found in nine unrelated patients with Behçet syndrome. Thus this observation suggests that, when thrombotic manifestations are the first and major symptom of Behçet syndrome, an additional cause of thrombosis has to be investigated.
Subject(s)
Behcet Syndrome/blood , Blood Proteins/deficiency , Glycoproteins/deficiency , Adult , Behcet Syndrome/complications , Behcet Syndrome/genetics , Female , Hemostasis , Humans , Male , Middle Aged , Pedigree , Protein S , Thrombophlebitis/complications , Thrombophlebitis/geneticsABSTRACT
Red blood cell phenotyping using micro-methods was carried out for Kidd (JK) and MNS systems in Algeria. The number of subjects tested was 3495 and 4388 respectively. Gene frequencies were estimated by the maximum likelihood method. The distribution of JKa seems to follow a West-South East-South gradient, whereas the MNS haplotypes show a heterogeneous distribution. Our results indicate an intermediate status of the Algerian population between Negroids and Caucasoids: JKa and MS haplotypes are medium, while MSU and NSU show low frequencies.
Subject(s)
Kidd Blood-Group System/genetics , MNSs Blood-Group System/genetics , Algeria , Alleles , Black People/genetics , Ethnicity , Gene Frequency , Genetic Markers , Haplotypes , Humans , Male , Phenotype , White People/geneticsABSTRACT
The frequency of alleles for intragenic (intron 17 and intron 25) and extragenic (DXS15 and DXS52) F8C RFLPs was investigated in the Algerian population. Altogether 287 X chromosomes (97 males and 95 females) were studied. The allele frequencies found with the two intragenic F8C RFLPs were not substantially different from those reported in a Mediterranean population. At the highly polymorphic extragenic DXS52 locus the distribution in Algeria differed from that found in France. A new allele (14 kb), called 1 DZ, was found in 3.1% of the chromosomes. Fifty-one families with hemophilia A were studied with the same probes (374 subjects). Of the females, 94% were informative for at least one intra- or extragenic RFLP. Two recombinations were found between DXS52 and F8C, of which one occurred between the DXS15, DXS52 block and F8C, indicating that the two anonymous loci are on the same side of the F8C gene. Only two obvious gene deletions were observed in 73 unrelated hemophiliacs: one encompassed exons 14-22 (about 4.3 kb of cDNA and 36 kb of genomic DNA); the other removed the last exon (exon 26, representing 2 kb of cDNA).
Subject(s)
Factor VIII/genetics , Hemophilia A/genetics , Polymorphism, Restriction Fragment Length , Algeria , Alleles , DNA Probes , Exons , Female , Gene Frequency , Humans , Introns , Male , Pedigree , X ChromosomeABSTRACT
Protein S inherited deficiency is associated with high risk of recurrent venous thrombotic disease (Broekmans et al, 1985a, b). Protein S exists as two forms in plasma, either free and functionally active or complexed with C4b-binding protein (C4b BP) and inactive (Dahlbäck & Stenflo, 1981). We report here the case of a 26-year-old woman and her brother, 28 years old, both suffering from recurrent venous thrombosis since the age of 20, diagnosed as severe protein S deficiency according to the following data: free protein S: 2.5-3% by ELISA, undetectable by electroimmunodiffusion (EID); total protein S: 13-16% by ELISA, 21-18% by EID, C4b BP: normal levels. Crossed immunoelectrophoresis using anti-protein S antibodies revealed only traces of protein S associated with C4b BP and no free protein S. All these assays were performed in the absence of any anticoagulant therapy. Among the investigated relatives, less severe protein S deficiency was observed in three children of the propositus: total protein S levels ranging from 41% to 50% (EID), 40-53% (ELISA); free protein S levels ranging from 16% to 18% (EID), 10-12% (ELISA); normal C4b BP levels. Crossed immunoelectrophoresis revealed traces of free protein S but a significant amount of protein S associated with C4b BP. From these results, we consider, according to Comp's classification (Comp et al, 1986a), that the propositus and her brother are the second case of protein S deficiency type II to be reported in the literature while her children belong to the type I category.
Subject(s)
Complement Inactivator Proteins , Glycoproteins/deficiency , Protein S Deficiency , Thrombophlebitis/genetics , Adult , Carrier Proteins/blood , Complement C4 , Female , Hemostatic Techniques , Humans , Immunoelectrophoresis, Two-Dimensional , Pedigree , Receptors, Complement/analysisABSTRACT
During the years 1982-1987, 66 patients with homozygous beta-thalassaemia were treated at the blood transfusion centre of Algiers. The patients, aged from 1 to 23 years in 1982, came from 48 families, 30 of which were issued from consanguinous unions. The patients fell into three groups according to the early institution and quality of treatment (blood transfusions, antibiotic therapy, desferrioxamine given when available). The beneficial clinical effects observed (satisfactory growth and development, reduction of splenomegaly and hypersplenism, attenuation of craniofacial malformations, performance at school) seemed to be directly related to the mean haemoglobin level prior to transfusion and to the early institution of treatment. Four patients died of anaemia and haemochromatosis. The incidence of viral contamination was 27.5 per cent for the hepatitis B virus and nil for the human immunodeficiency virus.
Subject(s)
Thalassemia/therapy , Adolescent , Adult , Algeria , Blood Transfusion , Body Height , Body Weight , Child , Child, Preschool , Female , Follow-Up Studies , Hemoglobins/analysis , Hepatitis B/transmission , Homozygote , Humans , Infant , Male , Splenectomy , Thalassemia/rehabilitationABSTRACT
An adult Algerian patient with homozygous beta thalassemia was found to have a unique beta thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this beta gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2) six bases 5' to the consensus AG dinucleotide sequence (CCGCCCACAG instead of CCTCCCACAG). In addition, digestion of the cloned fragment by the enzyme Mnl I demonstrates the disappearance of a restriction site as expected. This is the first example of a defect in the consensus sequence at the 3' end of an IVS leading to a thalassemia phenotype presumably due to decreased splicing.
Subject(s)
Globins/genetics , Thalassemia/genetics , Adult , Base Sequence , Female , Humans , Molecular Sequence Data , Pedigree , RNA SplicingABSTRACT
The red blood cell phenotyping of Rh and Duffy systems in 4300 Algerian was carried out by using micro-methods. The gene frequencies were estimated for each of the 26 "wilayas" (regions) of the country. Whereas the frequency of the cDe haplotype increases from north to south, the frequency of cde seems to decrease in the same direction and that of CDe increases from west to south to east. The frequencies of FY*b follow an increasing southwest northeast gradient. The frequencies of FY* follow a decreasing gradient with the same pattern. cDe, cDE and cde frequencies are of Black African type, while CDe is of Europeans type. The Duffy alleles show frequencies which are intermediate between typical Negroid and Caucasoid frequencies.
Subject(s)
Duffy Blood-Group System/genetics , Gene Frequency , Rh-Hr Blood-Group System/genetics , Algeria , Alleles , Black People/genetics , Humans , Male , Military Personnel , White People/geneticsABSTRACT
We report the first case of Hb Boumerdes, an alpha chain variant alpha 2(37) (C2) Pro----Arg beta 2, in an Algerian family. The propositus was also homozygous for the sickle cell gene. The abnormal hybrid Hb alpha 2Boum. beta 2S had an electrophoretic mobility on cellulose acetate pH 8.7 electrophoresis between those of Hb S and Hb A2. Its expression was about 16%. The alpha 2Boum. beta 2A fraction has a mobility between those of Hb F and Hb S. The effects of this mutation on Hb oxygen affinity and deoxy Hb S polymer formation were not studied. The propositus' sickle cell phenotype was benign.
Subject(s)
Anemia, Sickle Cell/genetics , Hemoglobin SC Disease/genetics , Hemoglobins, Abnormal/analysis , Mutation , Adolescent , Adult , Algeria , Child , Child, Preschool , Chromatography, High Pressure Liquid , Female , Hemoglobin SC Disease/blood , Hemoglobin SC Disease/ethnology , Homozygote , Humans , Isoelectric Focusing , Male , PedigreeABSTRACT
Protein 4.1, a principal component of the erythrocyte membrane skeleton, is thought to be important in regulating membrane stability through its interaction with spectrin and actin. A key role for protein 4.1 has been indicated in studies in which deficiency of this protein was shown to result in marked instability of the membrane. In order to obtain direct evidence for the functional role of protein 4.1, we reconstituted protein 4.1-deficient membranes with purified protein 4.1 and showed restoration of membrane stability. Erythrocyte membranes totally and partially deficient in protein 4.1 were reconstituted by exchange hemolysis with various concentrations of purified protein 4.1, and their stability measured using an ektacytometer. Native erythrocyte membranes totally deficient in protein 4.1 were markedly unstable, while those partially deficient had intermediate reductions in membrane stability. Reconstitution with increasing concentrations of purified protein 4.1 resulted in progressive restoration of membrane stability. Near-normal membrane stability could be restored to both totally and partially protein 4.1-deficient membranes. In contrast, the addition of protein 4.1 to resealed membranes did not improve membrane stability. This implies that the added protein 4.1 must have access to the cell interior in order to affect membrane stability. Furthermore, in control experiments, the addition of protein 4.1 to normal membranes did not increase their stability. Also, the addition of purified spectrin and human serum albumin during resealing did not improve stability of protein 4.1-deficient membranes. These results provide direct evidence for the crucial role of protein 4.1 in regulating erythrocyte membrane stability.