FAMILIAL ADENOMATOUS POLYPOSIS

Familial Adenomatous Polyposis

Familial Adenomatous PolyposisIntroduction

The Familial adenomatous polyposis is a rare inherited disease that comes between intestinal polyposis syndromes, characterized by the appearance of large numbers (more than 100 in the classic form) of polyps of the adenomatous type (benign tumors) in the colon and Straight from the 20 or 30 years. These polyps have a high probability of malignant after 30 years and colon cancer can be the result (Campbell, Spence, & Parks, 2006).

Discussion

History

FAP has been identified as a hereditary syndrome already in the 20s of the twentieth century. In 1972, Gardner's syndrome has been described, which is a form of FAP is characterized not only by the presence of hundreds or thousands of polyps in the intestine, but also osteomas and discoloration retina (CHRP, Eng. congenital hypertrophy of the retinal pigment epithelium). The occurrence of FAP began to be associated with the q21-q22 region of chromosome 5 based on observations of large deletions detected in cytogenetic studies and linkage studies RFLP markers of a patient with Gardner's syndrome, and advanced the development of polyps in the colon. At the end of the eighties orient linkage studies look at gene region comprising spaced apart by 150 kb genes, APC and MCC (Alarcon, Burke, Church, Stolk, & 1999).

In 1991, in patients with FAP, three genes were studied: DP1, SRP19 and DP2.5, which were located in a region that has been deleted. In two patients with FAP, it was observed that four mutations in DP2.5 (now gene APC) leading to a stop codon, one of which was transmitted to the progeny (Bülow, 1989). The APC protein has been studied since 1993, when it was observed that it is connected with ß-catenin, indicating that it participate in cell adhesion.

Symptoms

Numerous (over 100) adenomatous polyps are found in the colon and rectum. In addition, there may be other polyps of the upper gastrointestinal tract and parenteral symptoms, such as osteoma (osteoma), cysts epidermoidalne, formation of desmoidow, congenital hypertrophy of the retinal pigmentosa, and fewer cancers of the thyroid, small intestine, hepatoblastoma, a very rare brain tumor, adrenal gland, urinary bile and pancreatic ducts. When there are symptoms from other organs Gardner talk about the team. The co-occurrence of brain tumors and polyps of the colon is called Turcot syndrome (Campbell, Spence, & Parks, 2006).

The main symptom among hundreds of adenomatous is polyps of all sizes in the colon and rectum. ...