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Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/1744

Title: Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan
Authors: Fujimura, Yoshihiro
Matsumoto, Masanori
Isonishi, Ayami
Yagi, Hideo
Kokame, Koichi
Soejima, Kenji
Murata, Mitsuru
Miyata, Toshiyuki
Keywords: ADAMTS13 gene mutation
clinical phenotype
natural history
Upshaw–Schulman syndrome
Issue Date: 22-Jul-2011
Publisher: Blackwell Pub LTD
Citation: Journal of thrombosis and haemostasis Vol.9 Suppl. 1 p.283–301
Abstract: Upshaw–Schulman syndrome (USS) is an extremely rare hereditary deficiency of ADAMTS13 activity, termed congenital TTP. The clinical signs are usually mild during childhood, often with isolated thrombocytopenia. But their symptoms become more evident when patients have infections or get pregnant. We identified 43 USS-patients in Japan, who ranged in age from early childhood to 79 years of age. Analysing the natural history of these USS patients based on ADAMTS13 gene mutations may help characterise their clinical phenotypes. Severe neonatal jaundice that requires exchange blood transfusion, a hallmark of USS, was found in 18 of 43 patients (42%). During childhood, 25 of 43 patients were correctly diagnosed with USS without gender disparity. These 25 patients were categorised as having ‘the early-onset phenotype’. Between 15 and 45 years of age, 15 were correctly diagnosed, and, interestingly, they were all female. The remaining three patients were male and were diagnosed when they were older than 45 years of age, suggesting that they were ‘the late-onset phenotype’. Two of these three males developed sudden overt TTP when they were 55 and 63 years old, respectively. These two men had two different homozygous ADAMTS13 gene mutations, p.R193W/p.R193W and p.C1024R/p.C1024R, respectively. Both of which were not discovered in the US or Western countries. In vitro expression studies showed that these two proteins were consistently secreted into the culture medium but to a lesser extent and with reduced activity compared to the wild-type protein. Our results indicate that ‘the late-onset phenotype’ of USS is formed with ethnic specificity.
Description: ・The definitive version is available at " http://dx.doi.org/10.1111/j.1538-7836.2011.04341.x "
・State of the Art 2011 : XXIII Congress of the International Society on Thrombosis and Haemostasis Invited Review
URI: http://hdl.handle.net/10564/1744
ISSN: 15387933
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01311 輸血部

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