Naslov
A child with specific ADAMTS-13 gene defect

Autori
Milošević, Danko ; Batinić, Danica ; Vrljičak, Kristina ; Nižić, Ljiljana ; Turudić, Daniel ; Hovinga Kremer, Johanna.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Zbornik: Meeting abstract. / - New York (NY) : Pediatric nephology, 2010, 1648-1648

Skup
Meeting abstract New York

Mjesto i datum
Sjedinjene Američke Države, 05.09.2010. - 08.09.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ADAMTS-13 , child

Sažetak
A 4 year old child was admitted in Clinical hospital after recidivant episodes of haemolytic anaemia and thrombocytopenia registrated in early childhood, first recognized in a regional hospital in the maternity ward. The area of the highest incidence of the disease in our Continent is found in Northern Europe. Our boy is the first genetically confirmed ADAMTS13 mutation found in Croatia with the follow-up period of 9 years. To our knowledge it is the first described double TTP exon 9 : Cys 347 Ser and exon 29: 4143 ins A. This combination of mutations is also the first confirmed TTP mutation in our region. We could speculatively argue a possible exon 29: 4143 ins A migration of from countries of its highest incidence and present Croatian population in early medieval period (18). The first mutation of Exon 9 : Cys 347 Ser was described and as far as we know, no other mutation of this kind was found.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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