Familial adenomatous polyposis coli in childhood [Familiaire adenomateuze polyposis coli op de kinderleeftijd]
Familial adenomatous polyposis coli (FAP) is an inherited predisposition to develop hundreds to thousands adenomatous colorectal polyps leading to colorectal cancer, and is caused by germline mutations in the APC-gene. Polyps generally develop in childhood and are often asymptomatic or give aspecific symptoms. However, other extra-intestinal manifestations of FAP may well become manifest in childhood. Here we present a child with hepatoblastoma as the first manifestation of FAP and describe the genetic testing and counseling of him and his brother. An overview of the medical, genetic and psychosocial aspects of FAP in childhood is given. The genetic testing and counseling for FAP in children requires specific expertise and should be provided in a multidisciplinary setting.
|Keywords||APC protein, Wnt protein, article, case report, child, colon polyp, counseling, familial adenomatous polyposis coli, gene mutation, genetic analysis, genetic predisposition, hepatoblastoma, human, preschool child, social psychology|
Kattentidt-Mouravieva, A.A, Escher, J.C, van Kessel, I, Beishuizen, A, Vanheusden, K, & Wagner, A. (2010). Familial adenomatous polyposis coli in childhood [Familiaire adenomateuze polyposis coli op de kinderleeftijd]. Tijdschrift voor Kindergeneeskunde, 78(1), 28–33. Retrieved from http://hdl.handle.net/1765/19303