ADAMTS13 Gene Mutations in Children with Hemolytic Uremic Syndrome

作者：Choi Hyoung Soo; Cheong Hae Il; Kim Nam Keun; Oh Doyeun^*; Park Hye Won

来源：Yonsei Medical Journal, 2011, 52(3): 530-534.

DOI：10.3349/ymj.2011.52.3.530

• ADAMTS13
• mutation
• hemolytic uremic syndrome
• children

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, 5903L), 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.

• 出版日期2011-5-1