A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation |
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Authors: | Ozlu Ferda Kyotani Mayu Taskin Erdal Ozcan Kenan Kojima Tetsuhito Matsushita Tadashi Yapicioğlu Hacer Takagi Akira Saşmaz Ilgen Satar Mehmet Narli Nejat |
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Affiliation: | Department of Neonatology, Cukurova University, Faculty of Medicine, Adana, Turkey. ferdaozlu72@yahoo.com |
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Abstract: | 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. |
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