The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA repeats contribute to normal UGT1A1 activity and non-risk GS allele. Also, the UGT1A1 (TA)n promoter genotype is recognized as a clinically relevant pharmacogenetic marker. The aim of this study was to assess diagnostic value of UGT1A1 (TA)n promoter genotyping in pediatric GS patients. Correlation of the UGT1A1 (TA)n genotypes and level of unconjugated bilirubin at diagnosis and after hypocaloric and phenobarbitone tests in these patients was analyzed. Another aim of the study was to assess pharmacogenetic potential of UGT1A1 (TA)n variants in Serbia. Fifty-one pediatric GS patients and 100 healthy individuals were genotyped using different methodologies, polymerase chain reaction (PCR) followed by acrylamide electrophoresis, fragment length analysis and/or DNA sequencing. Concordance of the UGT1A1 (TA)n promoter risk GS genotypes with GS was found in 80.0% of patients. Therefore, UGT1A1 (TA)n promoter genotyping is not a reliable genetic test for GS, but it is useful for differential diagnosis of diseases associated with hyperbilirubinemia. Level of bilirubin in pediatric GS patients at diagnosis was UGT1A1 (TA)n promoter genotype-dependent. We found that the frequency of pharmacogenetic relevant UGT1A1 (TA)n promoter genotypes was 63.0%, pointing out that UGT1A1 (TA)n promoter genotyping could be recommended for preemptive pharmacogenetic testing in Serbia.

Objective -To present a case of hypoparathyroidism that was found to be a part of a rare chromosomal syndrome and to emphasize the importance of its early diagnosis. Case reports -We report the case of a neonate with hypoparathyroidism and dysmorphic features. The chromosome analysis detected terminal deletion of chromosome 10p13. The diagnosis was made of HDR (hypoparathyroidism, sensorineural deafness and renal disease) syndrome due to haploinsufficiency of the GATA-3 gene located on 10p. We searched for additional manifestations of 10p deletion and developed an early management plan in order to prevent complications and improve the prognosis. Conclusion -Chromosomal aberration should be suspected in any neonate with dysmorphic features and intrauterine growth retardation, but the presence of hypoparathyroidism may prompt targeted evaluation for particular chromosomal areas, including 10p.

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Pompeova bolest je rijetko autozomno recesivno nasljedno metaboličko oboljenjeuzrokovano nedostatkom enzima kisele alfa glukozidaze usljed mutacije GAA gena.Karakteriše se nakupljanjem glikogena u lizozomima svih ćelija, posebno ćelija mišića,jetre, srca i mozga. Simptomi bolesti mogu se javiti u različitoj dobi i mogu biti različitetežine, što najviše zavisi od prirode mutacije i rezidualne enzimske aktivnosti. Najteži jeinfantilni oblik kod koga rano nastaju kardiomegalija, hepatomegalija, hipotonija i mišićnaslabosti, i kod koga do smrtnog ishoda dolazi u toku prve godine života. Od 2006.godine dostupno je i odobreno liječenje Pompeove bolesti enzimskom supstitucionomterapijom. Uspješnost ovog vida liječenja najviše zavisi od stadija bolesti u vrijeme započinjaliječenja, genotipa i CRIM statusa. Većinom pacijenti sa CRIM negativnim statusomimaju loš odgovor na liječenje, više komplikacija i samim tim lošiju prognozu.U ovom radu smo prikazali prvi slučaj infantilne forme Pompeove bolesti koju smoliječili enzimskom supstitucionom terapijom u našoj zdravstvenoj ustanovi. Pompeovabolest se kod ovog pacijenta prvo manifestovala hipertrofičnom kardiomiopatijom iimala je brzu progresiju sa razvojem hepatomegalije, teške hipotonije, mišićne slabostii konačno srčane i respiratorne slabosti. Enzimsku supstitucionu terapijou pacijent jepočeo da prima u dobi od 3 mjeseca. Odgovor na terapiju je bio loš i pacijent je umrou dobi od 6 mjeseci.Smatramo da bi prepoznavanje ove bolesti u ranijoj dobi i započinjanje liječenja prijerazvoja kliničkih simptoma vjerojatno dalo bolji rezultat liječenja i produžilo životnivijek oboljelih od Pompeove bolesti.