ADAMTS13 Gene Mutations in Children with Hemolytic Uremic Syndrome.
10.3349/ymj.2011.52.3.530
- Author:
Hyoung Soo CHOI
1
;
Hae Il CHEONG
;
Nam Keun KIM
;
Doyeun OH
;
Hye Won PARK
Author Information
1. Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea. doh@cha.ac.kr
- Publication Type:Brief Communication ; Research Support, Non-U.S. Gov't
- Keywords:
ADAMTS13;
mutation;
hemolytic uremic syndrome;
children
- MeSH:
ADAM Proteins/*genetics;
Adolescent;
Child;
Child, Preschool;
Female;
Hemolytic-Uremic Syndrome/*genetics;
Humans;
Infant;
Male;
*Mutation;
Polymorphism, Genetic
- From:Yonsei Medical Journal
2011;52(3):530-534
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
