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001-es BibID:	BIBFORM083165
035-os BibID:	(PMID)31359133
Első szerző:	Kovac, Mirjana
Cím:	Genotype phenotype correlation in a pediatric population with antithrombin deficiency / Mirjana Kovac, Gorana Mitic, Iva Djilas, Milos Kuzmanovic, Olivera Serbic, Danijela Lekovic, Branko Tomic, Zsuzsanna Bereczky
Dátum:	2019
ISSN:	0340-6199
Megjegyzések:	Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the aim of our study was to evaluate genotype phenotype correlation in a Serbian pediatric population. A retrospective cohort study included 19 children younger than 18 years, from 15 Serbian families, with newly diagnosed AT deficiency. In 21% of the recruited families, mutations affecting exon 4, 5, and 6 of the SERPINC1 gene that causes type I AT deficiency were detected. In the remaining families, the mutation in exon 2 causing type II HBS (AT Budapest 3) was found. Thrombosis events were observed in 1 (33%) of those with type I, 11 (85%) of those with AT Budapest 3 in the homozygous respectively, and 1(33%) in the heterozygous form. Recurrent thrombosis was observed only in AT Budapest 3 in the homozygous form, in 27% during initial treatment of the first thrombotic event. Abdominal venous thrombosis and arterial ischemic stroke, observed in almost half of the children from the group with AT Budapest 3 in the homozygous form, were unprovoked in all cases.Conclusion: Type II HBS (AT Budapest 3) in the homozygous form is a strong risk factor for arterial and venous thrombosis in pediatric patients. What is Known: ? Inherited AT deficiency is a rare autosomal dominant disorder, caused by mutations in the SERPINC1gene. ? The genotype phenotype correlation in AT deficiency patients remains unclear, especially in pediatric patients. What is New: ? The genetic results for our paediatric population predominantly showed the presence of a single specific mutation in exon 2, that causes type II HBS deficiency (AT Budapest 3). ? In this group thrombosis mostly occurred as unprovoked, in almost half of them as abdominal thrombosis or stroke with high incidence of recurrent thrombosis, in 27% during initial treatment.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Antithrombin deficiency Pediatric population SERPINC1 mutations
Megjelenés:	European Journal of Pediatrics. - 178 : 10 (2019), p. 1471-1478. -
További szerzők:	Mitic, Gorana Djilas, Iva Kuzmanovic, Milos Serbic, Olivera Lekovic, Danijela Tomic, Branko Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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