Genetic Determinants of Kawasaki Disease
Genetic Determinants of Kawasaki Disease
Kawasaki disease (KD) is an acute self-limited vasculitis of infancy and early childhood.
 Most patients recover without sequelae although the inflammatory process causes permanent
 damage to the coronary arteries in 20-25% of untreated children. An infectious aetiology is
 suspected, but the causative agent has not been identified. The investigators aim to identify
 the genes underlying both susceptibility to Kawasaki disease, and the development of coronary
 artery aneurysms.
The problem to be addressed;

 Kawasaki disease is now the most common cause of acquired heart disease in children in Japan
 and North America. Kawasaki disease arises when genetically predisposed children encounter an
 as yet unidentified infectious agent which may cause only mild illness or no illness at all
 in children without the genetic predisposition. Other children may suffer permanent damage to
 the coronary arteries. Identification of the genes involved will help to improve
 understanding of the disease, and the development of better treatments.

 Objective

 The investigators aim to identify the genes underlying both susceptibility to Kawasaki
 disease, and the development of coronary artery aneurysms.

 Design

 The study will recruit nuclear families (affected child and their biological parents) through
 participating NHS hospitals or through the records of the UK Kawasaki Support Group.

 Study size

 400 affected children and both biological parents (i.e. 1200 participants)

 Procedures

 Informed consent using age appropriate patient/parent/guardian information sheets will be
 taken from parents (or from children aged 16 and over), assent will be taken from the child
 under the age of 16 (if appropriate). Children recruited during the acute illness; routine
 clinical and laboratory data and research samples (blood, urine, throat swab). Children
 recruited retrospectively; study questionnaire (completed by parents), saliva samples.Saliva
 samples from parents
Inclusion Criteria:

 -  Affected children will be recruited if the treating clinician has made a diagnosis of
 possible Kawasaki disease (even if they do not fulfil the criteria below for Kawasaki
 disease).

 The current standard diagnostic criteria for KD (Circulation 2001 103 335-336 doi:
 10.1161/01.CIR 103.2.335) are:

 The presence of fever for at least five days plus four of the following criteria:

 1. Changes in the peripheral extremities Acute: erythema and oedema of hands and feet
 Convalescent: membranous desquamation of fingertips

 2. Polymorphous exanthema

 3. Bilateral painless bulbar conjunctival injection without exudate

 4. Changes in lips and oral cavity: erythema and cracking of lips, strawberry tongue,
 diffuse injection of oral and pharyngeal mucosae

 5. Cervical lymphadenopathy (>1.5cm diameter), usually unilateral Patients meeting not
 all of these criteria may meet the criteria for atypical Kawasaki disease, ie. if they
 have fever and two or three of the above criteria and elevation of CRP or
 echocardiographic evidence of coronary artery dilatation.

 Parents of affected child must be biological parents.

 Exclusion Criteria:

 -  children who do not have a diagnosis of possible Kawasaki disease