| Autor: |
Ampaiwan Chuansumrit, Surapan Parapakpenjune, Rungrote Natesirinilkul, Patcharee Komvilaisak, Werasak Sasanakul, Nongnuch Sirachainan, Anchalee Aramthienthamrong, Chorthip Wattanasutthipong, Kittima Kanchanakumhan, Kunrada Inthawong, Montana Chantaraniyom, Naonpan Pongpaothai, Nattaporntira Phalakornkul, Nisakorn Khumchan, Pacharapan Surapolchai, Panjarat Sowittayasakul, Somporn Wangruangsathit |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Pediatric Hematology Oncology Journal, Vol 7, Iss 4, Pp 130-135 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2468-1245 |
| DOI: |
10.1016/j.phoj.2022.08.003 |
| Popis: |
Objective: The phenotypic and genotypic analysis of patients with congenital factor VII deficiency were retrospectively conducted. Methods: The study included 26 patients defined as severe (n = 25) and moderate (n = 1) degree by FVII 3% did not exhibit serious spontaneous bleeding. The initial bleeding episodes were controlled by administering fresh frozen plasma (FFP) and switched to factor concentrates among a few patients upon definite diagnosis. Subsequent prophylaxis was provided to patients with initial severe bleeding manifestation using FFP (15 ml/kg) 2–3 times weekly or recombinant factor VIIa (90 μg/kg) twice weekly. Genotypic analysis revealed homozygous or double heterozygous mutations among all patients except one patient with heterozygous mutation combined with homozygous polymorphism at codon 413 of G to A substitution (AA) at exon 8 of the FVII gene. The FVII gene mutation was commonly found at IVS6+1G > T (38.3%), followed by p.K376 X (19.2%) and IVS2+2T > C (17.0%). The case fatality rate was 19.2% (5/26) among patients with severe degree. Conclusion: Early diagnosis and appropriate management of congenital factor VII deficiency is essential for favorable outcomes. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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