Cystic fibrosis--an otolaryngologic perspective

Abstract

Cystic fibrosis (CF) is the most common lethal genetic disorder in white patients. The protean manifestations of the disease result from exocrine gland dysfunction and include chronically debilitating pulmonary and pancreatic compromise and clinically inconsequential (although diagnostically extremely important) sweat electrolyte abnormalities. The subject of this article is the otolaryngologic manifestations of the disease, based on a retrospective analysis of 450 cases. Nasal polyposis and sinusitis occurred in 10% and 11% of patients, respectively, and polypectomy was, after laparotomy, the most common surgical procedure these children underwent. The extent of intranasal surgery for polyposis was found to be inversely proportional to the recurrence rate. A simple polypectomy was relatively ineffective treatment; when performed in conjunction with a Caldwell-Luc and either an intranasal or extranasal ethmoidectomy, the recurrence rate was less than 13%. Otologic problems, found in 8% of patients, included chronic otitis media (2.5%) and acute otitis media (5.5%). Only five patients required pressure-equalizing tubes. Recent genetic advances of immense importance are also described. Although the basic gene defect has yet to be elucidated, by use of a technique known as restriction-fragment-linked polymorphism, the gene associated with CF has been found in the middle of the long arm of chromosome 7. By following gene markers closely associated with this gene, it is possible to do carrier tests within affected families and, if certain criteria are met, perform prenatal diagnosis. Eventual isolation and characterization of the gene will follow, hopefully making prevention possible and treatment more effective.