ADAMTS13 gene mutations in children with hemolytic uremic syndrome

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 w...

Full description

Saved in:
Bibliographic Details
Published in:Yonsei medical journal 2011, 52(3), , pp.530-534
Main Authors: Choi, Hyoung Soo, Cheong, Hae Il, Kim, Nam Keun, Oh, Doyeun, Park, Hye Won
Format: Article
Language:English
Subjects:
ADAM Proteins - genetics
ADAMTS13 Protein
Adolescent
Brief Communication
Child
Child, Preschool
Female
Hemolytic-Uremic Syndrome - genetics
Humans
Infant
Male
Mutation
Polymorphism, Genetic
의학일반
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0513-5796
1976-2437
DOI:10.3349/ymj.2011.52.3.530