This assignment examines common single-gene disorders and the treatment of cystic fibrosis. Apart from single-gene disorders, other categories of genetic diseases are multifactorial inheritance, chromosome abnormalities, and mitochondrial inheritance. For single gene inheritance, mutations occur in the DNA sequence of a single gene. Cystic fibrosis is a type of single-gene inheritance. The symptoms of cystic fibrosis include shortness of breath and, wheezing, and difficulty with bowel movements. Other examples of single-gene inheritance are fragile X-syndrome and hemochromatosis. There are various patterns of genetic inheritance for single-gene disorders like autosomal dominant inheritance and autosomal recessive inheritance. X-linked inheritance is also common, where the defective gene is present on the X-chromosome.
common single-gene disorders and the treatment of cystic fibrosis
DIAGNOSIS AND TREATMENT OF CYSTIC FIBROSIS
The treatment of cystic fibrosis serves to reduce complications because there is no cure. For infants, it involves checking for high levels of immunoreactive trypsinogen (IRT). For older children, medical professionals recommend genetic and sweat tests for Cystic Fibrosis (CF). The main goal of treatment is to ease the symptoms of cystic fibrosis. The treatment works to control infections in the lungs by removing or loosening lung mucus. Close monitoring and early, aggressive intervention are crucial in slowing the progression of CF. This, therefore, helps patients with single-gene disorders to live a longer life. Adequate nutrition also helps in preventing intestinal blockage.
diagnosis and treatment of cystic fibrosis
COMMON SINGLE-GENE DISORDERS; FACTS AND SYMPTOMS OF CYSTIC FIBROSIS
There are more than 70,000 people who exhibit symptoms of cystic fibrosis. In the U.S., more than 30,000 people have cystic fibrosis. There are about 1,000 new cases of CF every year. Previously, children with CF had very short lifespans. CF patients also had trouble managing most of CF symptoms. Currently, there are improvements in the treatment of cystic fibrosis. Modern medicine helps to temporarily eliminate frequent lung infections and persistent coughing to lengthen patients’ lives. Maintaining proper weight is also crucial in improving the health of people with single-gene disorders. However, it is very challenging to eliminate effects like male infertility.
facts and symptoms of cystic fibrosis
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