Appendicitis is one of the most common acquired surgical conditions of childhood. Diagnosis of appendicitis remains difficult. Much work has been done on validation of clinical scores to reduce the number of unnecessary surgeries and radiographic tests while maintaining a high sensitivity for disease. However, no score performs well enough in practice to reduce these risks (Kulik et al., 2013). It is also known that appendicitis has a familial predominance, but little is known about the genetic factors that may increase a certain child's risk for the condition (Oldmeadow et al., 2009). While clearly environmental factors explain much of acquired appendicitis, the delineation of biologically factors may explain why certain patients exhibit disease, and give much more insight into the biological foundations of this illness. Unfortunately, most children presenting with appendicitis have not been referred for genetic testing unless other signs of a genetic disorder such as developmental delay or dysmorphic features are present. As a result, biologic causes of childhood appendicitis often go unrecognized, although some early work has shown that at least some biological markers exist (Muenzer et al., 2010). The addition of genetic testing results either for pre-test probability or biologic cause driven by a known genetic locus to a well standardized clinical score may make the diagnosis of appendicitis much more sensitive for the front line clinicians, therefore reducing risk for patients without the condition, and streamlining medical care for those who do.
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Monday, September 1, 2014
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Todd Lingren. Cincinnati Children's Hospital Medical Center. Appendicitis. PheKB; 2014 Available from: https://phekb.org/phenotype/236