Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany.
OBJECTIVE
Certain genetic variants in the CARD15 gene are accompanied by an enhanced risk to develop Crohn disease with the main activity in the terminal ileum and ensuing stricturing early in life. The objective of this study was to evaluate the relation between CARD15 mutations and overall disease activity and response to therapy in pediatric patients.


METHODS
65 genomic DNA samples from such patients were tested for the presence of three main Crohn associated mutations in CARD15 by direct genomic sequencing. The number of mutations (none, one or two alleles affected) was correlated with body mass index and height, Pediatric Crohn Disease Activity Index, therapy and therapeutical success in terms of body mass index and Pediatric Crohn Disease Activity Index improvement.


RESULTS
The authors found a nonsignificant trend of a lower body mass index and higher Pediatric Crohn Disease Activity Index in patients with CARD15 mutations. Physicians uninformed about their CARD15 status prescribed significantly more budesonide and prednisolone intermittently and more alimentary supplementation to these patients. The average improvement in terms of body mass index and Pediatric Crohn Disease Activity Index after 2 years of therapy was roughly similar in all patient groups.


CONCLUSIONS
Pediatric Crohn patients with CARD15 mutations have a higher disease activity and need a more intensive therapy. With some exceptions, their medium-term response to therapy is nevertheless satisfying.
Roesler
Joachim
J
Department of Paediatrics, Institute of Medical Informatics and Biometrics, University Hospital Carl Gustav Carus Dresden, Germany.
Thürigen
Anett
A
Sun
Liping
L
Koch
Rainer
R
Winkler
Ulf
U
Laass
Martin W
MW
Gahr
Manfred
M
Rösen-Wolff
Angela
A
Henker
Jobst
J
D000293:Adolescent; D001827:Body Height; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003424:Crohn Disease / Q000235:genetics* / Q000473:pathology / Q000628:therapy*; D005260:Female; D005838:Genotype; D005858:Germany; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D012720:Severity of Illness Index
D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein