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Cystic Fibrosis is a genetic disease characterized by hypochloremia and autosomal recessive inheritance tendencies. CF occurs in 1 in 2500 births, and 1 out of 25 whites carry one copy of the specific gene that causes cystic Fibrosis. When one of 2 or more alternative forms of a gene in the DNA sequence is at a genomic location with embryos inheriting two alleles, one from each parent, the individual is homozygous (having identical genome markers found at the same place on the chromosome). . (McCance & Huether, 2019
Homozygous individuals must have a recessive allele to deliver the disease. (National Human Genome Research Institute, 2023) These genes or alleles are classified as normal, wild-type, abnormal, or mutant. If the allele is different, defined as heterozygous, or has two versions of the genomic marker. (Dutra, Ph.D., 2023) The CF gene encodes a protein product that forms chloride channels in the membranes of specialized epithelial cells.
Defective transport of chloride ions leads to a salt imbalance, resulting in secretions of abnormally thick, dehydrated mucus. Some digestive organs, particularly the pancreas, become obstructed, causing malnutrition, and the lungs become clogged with mucus making them highly susceptible to bacterial infections (Pseudomonas). With the progression of the disease, lung disease and heart failure develop, and by age 40, death is expected. Consanguinity or two individuals from the same bloodline (second cousins or closer) becoming pregnant with both carrying the same recessive genes, contributing to the inheritance of CF. (Dutra, Ph.D., 2023, Chapter four)
Why is the patient presenting with the specific symptoms described?
