Yonsei Med J.  2011 May;52(3):530-534. 10.3349/ymj.2011.52.3.530.

ADAMTS13 Gene Mutations in Children with Hemolytic Uremic Syndrome

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

• KMID: 1777028
• DOI: http://doi.org/10.3349/ymj.2011.52.3.530

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.

Keyword

ADAMTS13; mutation; hemolytic uremic syndrome; children

MeSH Terms

ADAM Proteins/*genetics
Adolescent
Child
Child, Preschool
Female
Hemolytic-Uremic Syndrome/*genetics
Humans
Infant
Male
*Mutation
Polymorphism, Genetic

Figure

• 

  Fig. 1 ADAMTS13 gene structure and mutation sites in 3 HUS patients. *Three polymorphisms are indicated by italics. HUS, hemolytic uremic syndrome; S, signal peptide; P, propeptide; MP, metalloprotease domain; D, disintegrin-like domain; T, TSP1 motif; Cys, cysteine-rich domain; Sp, spacer domain; C, CUB domain.

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