Browsing by Author "Bogdanovic R."

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    Genetic screening in adolescents with steroid-resistant nephrotic syndrome
    (Nature Publishing Group, 2013) Lipska B.S.; Iatropoulos P.; Maranta R.; Caridi G.; Ozaltin F.; Anarat A.; Balat A.; Gellermann J.; Trautmann A.; Erdogan O.; Saeed B.; Emre S.; Bogdanovic R.; Azocar M.; Balasz-Chmielewska I.; Benetti E.; Caliskan S.; Mir S.; Melk A.; Ertan P.; Baskin E.; Jardim H.; Davitaia T.; Wasilewska A.; Drozdz D.; Szczepanska M.; Jankauskiene A.; Higuita L.M.S.; Ardissino G.; Ozkaya O.; Kuzma-Mroczkowska E.; Soylemezoglu O.; Ranchin B.; Medynska A.; Tkaczyk M.; Peco-Antic A.; Akil I.; Jarmolinski T.; Firszt-Adamczyk A.; Dusek J.; Simonetti G.D.; Gok F.; Gheissari A.; Emma F.; Krmar R.T.; Fischbach M.; Printza N.; Simkova E.; Mele C.; Marco Ghiggeri G.; Schaefer F.
    Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. © 2013 International Society of Nephrology.
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    Molecular characterization of cystinuria in south-eastern European countries
    (2013) Popovska-Jankovic K.; Tasic V.; Bogdanovic R.; Miljkovic P.; Golubovic E.; Soylu A.; Saraga M.; Pavicevic S.; Baskin E.; Akil I.; Gregoric A.; Lilova M.; Topaloglu R.; Sukarova Stefanovska E.; Plaseska-Karanfilska D.
    Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included direct sequencing, single strand conformational polymorphism, and restriction fragment length polymorphism. A total of 93 (94.9 %) out of 98 unrelated cystinuric chromosomes have been characterized. Mutations in SLC3A1 gene account for 64.3 % and in SLC7A9 gene for 30.6 % of the cystinuric chromosomes. Ten different mutations in SLC3A1 gene were found, and two of them were novel (C242R and L573X), while in SLC7A9 gene seven mutations were found, of which three were novel (G73R, V375I and c.1048-1051delACTC). The most common mutations in this study were T216M (24.5 %), M467T (16.3 %) and R365L (11.2 %) in SLC3A1 and G105R (21.4 %) in SLC7A9 gene. A population specificity of cystinuria mutations was observed; T216M mutation was the only mutation present among Gypsies, G105R was the most common mutation among Albanians and Macedonians, and R365L among Serbs. The results of this study allowed introduction of rapid, simple and cost-effective genetic diagnosis of cystinuria that enables an early preventive care of affected patients and a prenatal diagnosis in affected families. © 2012 Springer-Verlag Berlin Heidelberg.