Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology.
Early diagnosis is an important factor in a better prognosis in patients with Wiskott-Aldrich syndrome (WAS), but it is not always easy to distinguish between WAS and immune thrombocytopenic purpura on clinical grounds. To confirm or to exclude a WAS diagnosis promptly for children with thrombocytopenia, the authors performed flow cytometric screening of Wiskott-Aldrich syndrome protein (WASP) for 10 children with thrombocytopenia of an unknown etiology. Five children were diagnosed with WAS, and the remaining 5 were diagnosed as having non-WAS causes of thrombocytopenia. There were no ambiguous results, and these were confirmed by genetic analysis. The authors conclude that screening by flow cytometry for WASP is recommended for boys with persistent thrombocytopenia of an unknown etiology.
Ariga
Tadashi
T
Department of Human Gene Therapy, Hokkaido University Graduate School of Medicine, Sapporo, Japan. tada-ari@med.hokudai.ac.jp
Nakajima
Masaru
M
Yoshida
Jukei
J
Yamato
Kazumi
K
Nagatoshi
Yoshihisa
Y
Yanai
Fumio
F
Caviles
Alendry P
AP
Nelson
David L
DL
Sakiyama
Yukio
Y
D002675:Child, Preschool; D005434:Flow Cytometry; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000032:analysis / Q000235:genetics; D013921:Thrombocytopenia / Q000209:etiology*; D014923:Wiskott-Aldrich Syndrome / Q000150:complications* / Q000175:diagnosis*; D051316:Wiskott-Aldrich Syndrome Protein
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein