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Sinuses, lungs, skin, liver, pancreas, intestines, reproductive organs
Sinusitis infection, lungs: thick, sticky, mucus buildup, bacterial infection, and widened airways. Skin: sweat glands produce salty sweat, liver: blocked biliary ducts, pancreas: blocked pancreatic ducts, intestines: cannot fully absorb nutrients, reproductive organs: male and female complications.
mutations affecting a gene on the long arm of chromosome 7 (the deletion of phenylalanine 508), which codes for a chloride channel known as cystic fibrosis transmembrane conductance regulator (CFTR); this influences salt and water movement across epithelial cell membranes.
(increased sodium and chloride content in sweat and increased resorption of sodium and water from respiratory epithelium.)
Epidemiology/ risk factor
In U.K. around 1:25 people are carriers, and
about 1:2500 are affected./ Genetic link- autosomal recessive disorder. Marriage between relatives
Symptoms, signs/ history
bronchiectasis, (infancy, childhood, adolescence table slide 12), clubbing of the fingers, chronic cough, absorption of vitamins and enzymes, shortness of breath or wheezing, bowl obstruction.
sweat electrolyte testing and genotyping. (adult and children)
Neonatal screening, using immunoreactive trypsin and genetic testing of newborn blood samples
1. Diet: less fat, more sodium. 2. physiotherapy- Pulmonary therapy (chest physical therapy- breathing exercises- inhalation therapy) 3. Antibiotics, vitamins, pancreatic enzymes
Psychological & social impact
Anxiety and depression, more demands regarding treatment, feeding, blood tests, they may look smaller and thiner.
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