A neonate with hombzygous protein C deficiency with a homozygous Arg178Trp mutation

Ozlu, FERDA; Kyotani, Mayu; TASKIN, Erdal; OZCAN, Kenan; Kojima, Tetsuhito; Matsushita, Tadashi; Yapicioglu, HACER; Takagi, Akira; Sasmaz, Ilgen; SATAR, MEHMET; Narli, NEJAT

doi:10.1097/mph.0b013e318179a15d

A neonate with hombzygous protein C deficiency with a homozygous Arg178Trp mutation

Ozlu F., Kyotani M., TASKIN E., OZCAN K., Kojima T., Matsushita T., ...Daha Fazla

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.30, sa.8, ss.608-611, 2008 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 30 Sayı: 8
Basım Tarihi: 2008
Doi Numarası: 10.1097/mph.0b013e318179a15d
Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.608-611
Çukurova Üniversitesi Adresli: Evet

Özet

Homozygous protein C deficiency affects approximately 1/400,000 to 1/1,000,000 live births. Homozygous protein C deficiency is associated with catastrophic and fatal purpura fulminans-like or thrombotic complications and disseminated intravascular coagulation. In the present patient, genetic study revealed Arg178Trp, a mutation found widely in European population; but this is the first case of homozygous Arg178Trp mutation who suffered from catastrophic purpura fulminans phenotype.