Dyskeratosis congenita: Molekuláris diagnosztika és terápiás lehetoségek

Translated title of the contribution: Molecular diagnosis and therapeutic measures in patients with dyskeratosis congenita

Zsolt D.R. Reiger, Gergely D.R. Varga, Beáta Tóth, László D.R. Maródi, Melinda D.R. Erdös

Research output: Contribution to journalReview article

3 Citations (Scopus)

Abstract

Dyskeratosis congenita is a rare genetically heterogeneous disorder characterized by bone marrow failure and premature ageing. Current knowledge on clinical manifestations, molecular pathomechanisms, diagnostic criteria and therapeutic possibilities of patients with dyskeratosis congenita are described. Mutation analysis of the gene encoding for dyskerin revealed the c.IVS2-5C>G splice site mutation. The importance of early diagnosis in order to prevent severe invasive infections and non-infectious complications is emphasized. Family screening is important to identify carriers as prenatal genetic diagnosis conveys great benefits for family planning.

Original languageHungarian
Pages (from-to)285-292
Number of pages8
JournalOrvosi hetilap
Volume151
Issue number8
DOIs
Publication statusPublished - Feb 1 2010

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ASJC Scopus subject areas

  • Medicine(all)

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