Screening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritance [Rastreio dos membros da família de crianças com Febre Mediterrânica Familiar: Transmissão autossómica verdadeira e pseudo-autossómica]
Yükleniyor...
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Publisaude-Edicoes Medicas Lda
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objectives: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. Methods: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. Results: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. Conclusion: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.
Açıklama
Anahtar Kelimeler
Familial Mediterranean Fever, Inheritance, Screening, Mutation, Marenostrin Encoding Fever Gene
Kaynak
Acta Reumatologica Portuguesa
WoS Q Değeri
N/A
Scopus Q Değeri
Q3
Cilt
33
Sayı
4
