Cystic fibrosis, or CF, an autosomal recessive disease, is inherited only if both parents pass on a copy of the gene for CF. The defective gene causes the body to produce thick mucus that obstructs the lungs and pancreas. Around 66 percent of cases are diagnosed before age 1, but 7 percent present with atypical symptoms and aren't diagnosed until age 10 or later, notes an article in the August 2001 issue of "Respiratory Research." Atypical CF has gene mutations that cause less severe disease.
Congenital Absence of the Vas Deferens
The vas deferens is the tube that carries the sperm from the testicles to the urethra. Congenital bilateral absence of the vas deferens makes sperm ejaculation impossible. Pregnancy can only be achieved through in vitro fertilization combined with sperm aspiration, or the direct removal of the sperm from the tests through a needle. Between 2 to 6 percent of all male infertility occurs because of this condition, known as CBAVD, reports the September 2003 issue of "Archives of Pathology and Laboratory Medicine," adding that almost 75 percent of men with CBAVD carry one common CF mutation. In one French study cited by the "Archives of Pathology and Laboratory Medicine" article, only 13 percent of men with CBAVD carried no mutated CF genes. Because the majority of men with CBAVD carry at least one mutated CF gene, genetic testing should be advised for the female partner before in vitro fertilization is done.
Pancreatitis
Pancreatitis, inflammation of the pancreas, can occur as an acute or chronic disease. People with atypical CF develop pancreatitis at a later age than those with the classic form of the disease. Research indicates that a person must inherit CF mutations from both parents to develop pancreatitis, according to the journal "Respiratory Research."
Pulmonary Disease
Mild pulmonary disease in adults can indicate atypical CF and the presence of one or more mutations on the CF gene. Bronchiectasis, dilation of the bronchial tree indicating obstructive lung disease, can suggest atypical CF and should be followed up with genetic testing, according to "Respiratory Research." Pathologic changes in the upper lobe of the lung and the presence of Pseudomonas aeruginosa bacteria in the lower lobe also point to a possible diagnosis of atypical CF.
Sinusitis
People with chronic sinusitis and nasal polyps have an increased incidence of CF mutations, according to "Archives of Pathology and Laboratory Medicine."
