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Upshaw‐Schulman Syndrome in Two Siblings
Author(s) -
Saitoh Hiroharu,
Murakami Hideko,
Mori Chuzo
Publication year - 1990
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1990.tb00846.x
Subject(s) - medicine , microangiopathic hemolytic anemia , von willebrand factor , platelet , anemia , hemolytic anemia , gastroenterology , schistocyte , von willebrand disease , immunology , pediatrics , thrombotic thrombocytopenic purpura
Upshaw‐Schulman syndrome is a rare disease, and familial occurrence has not been reported. In this paper, two Japanese brothers, aged 2 and 6 years, with microangiopathic hemolytic anemia, thrombocytopenia and fragmented red cells from the newborn period are reported. Unusually large von Willebrand factor (vWF) multimers were found in the plasma samples from both cases during remission, while the quantities of the unusually large vWF multimers decreased greatly at a low platelet count. They were temporarily relieved from hemolytic anemia and thrombocytopenia by infusions of plasma from normal donors. It appears that our patients lack an unidentified plasma factor, which is genetically determined.