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


Ozlu F. , Kyotani M., TASKIN E., OZCAN K., Kojima T., Matsushita T., et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.30, ss.608-611, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 30 Konu: 8
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1097/mph.0b013e318179a15d
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Sayfa Sayısı: ss.608-611

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.