ADAMTS13 gene mutations in children with hemolytic uremic syndrome.

Article Details


Choi HS, Cheong HI, Kim NK, Oh D, Park HW

ADAMTS13 gene mutations in children with hemolytic uremic syndrome.

Yonsei Med J. 2011 May;52(3):530-4. doi: 10.3349/ymj.2011.52.3.530.

PubMed ID
21488199 [ View in PubMed

We investigated ADAMTS13 activity as well as the ADAMTS13 gene mutation in children with hemolytic uremic syndrome (HUS). Eighteen patients, including 6 diarrhea- negative (D-HUS) and 12 diarrhea-associated HUS (D+HUS) patients, were evaluated. The extent of von Willebrand factor (VWF) degradation was assayed by multimer analysis, and all exons of the ADAMTS13 gene were PCR-amplified using Taq DNA polymerase. The median and range for plasma activity of ADAMTS13 in 6 D-HUS and 12 D+HUS patients were 71.8% (22.8-94.1%) and 84.9% (37.9-119.9%), respectively, which were not statistically significantly different from the control group (86.4%, 34.2-112.3%) (p>0.05). Five ADAMTS13 gene mutations, including 2 novel mutations [1584+2T>A, 3941C>T (S1314L)] and 3 polymorphisms (Q448E, P475S, S903L), were found in 2 D-HUS and one D+HUS patients, which were not associated with deficiency of ADAMTS13 activity. Whether these mutations without reduced ADAMTS13 activity are innocent bystanders or predisposing factors in HUS remains unanswered.

DrugBank Data that Cites this Article

NameUniProt ID
A disintegrin and metalloproteinase with thrombospondin motifs 13Q76LX8Details