Cystic Fibrosis
Incidence: cystic fibrosis affect 1 in 2,500 births in the U.S. and
Cause: cystic fibrosis occurs when a genetic mutation stops the production of the protein impairs the cells ability to transport chloride ions into and out of the cell. this sets up secondary conditions, including the thick mucus and bacterial infections in the lung
Symptoms: children should be tested for cystic fibrosis if they have persistent diarrhea ,smelly and greasy stool, frequent pneumonia, chronic coughing, salty skin, or poor growth
Inheritance: cystic fibrosis is a recessive disorder. That is, a person gets cystic fibrosis only when she or he inherits two copies of the mutated gene, one from each parent
Treatment: Nutritional problems from the lack of digestive enzymes are usually solved with enzyme supplements. Lung problems are treated, but not cured, with chess percussions or other methods of clearing mucus, drugs that help break up the mucus, and antibiotics. When the lungs begin to fail, a lung transplant can extend life
Testing and Screening:people with cystic fibrosis have saltier sweat than others, so, the simple and inexpensive "sweat test" that measures the amount of salt in a persons sweat, is used for diagnosis. Carriers of the cystic fibrosis gene can be detected with DNA testing, but the test can only pick up 80-85 percent of carriers of northern european descent
Link to website: http://www.ygyh.org/
Cause: cystic fibrosis occurs when a genetic mutation stops the production of the protein impairs the cells ability to transport chloride ions into and out of the cell. this sets up secondary conditions, including the thick mucus and bacterial infections in the lung
Symptoms: children should be tested for cystic fibrosis if they have persistent diarrhea ,smelly and greasy stool, frequent pneumonia, chronic coughing, salty skin, or poor growth
Inheritance: cystic fibrosis is a recessive disorder. That is, a person gets cystic fibrosis only when she or he inherits two copies of the mutated gene, one from each parent
Treatment: Nutritional problems from the lack of digestive enzymes are usually solved with enzyme supplements. Lung problems are treated, but not cured, with chess percussions or other methods of clearing mucus, drugs that help break up the mucus, and antibiotics. When the lungs begin to fail, a lung transplant can extend life
Testing and Screening:people with cystic fibrosis have saltier sweat than others, so, the simple and inexpensive "sweat test" that measures the amount of salt in a persons sweat, is used for diagnosis. Carriers of the cystic fibrosis gene can be detected with DNA testing, but the test can only pick up 80-85 percent of carriers of northern european descent
Link to website: http://www.ygyh.org/
Down syndrome
Incidence: Down syndrome occurs for 1 in 900 people get it each day from down syndrome
Cause: The cause of down syndrome is too much of chromosome 21. and if there is too much of that one chromosome it attaches to a different chromosome called chromosome 14.
Symptoms: upward slant to the eyes, less muscle tone, flattened cheeks, with depressed nasal bridge, small nose, small mouth and abnormal shaped ears.
Inheritance: the result of down syndrome is the faulty gamete cell division and not inherited
Treatment: there is no cure for down syndrome however medical care is essential to down syndrome
Testing and Screening: babies born with down syndrome usually have physical characteristics that lead to a suspicion of the disorder.
Link to website: http://www.ygyh.org/
Cause: The cause of down syndrome is too much of chromosome 21. and if there is too much of that one chromosome it attaches to a different chromosome called chromosome 14.
Symptoms: upward slant to the eyes, less muscle tone, flattened cheeks, with depressed nasal bridge, small nose, small mouth and abnormal shaped ears.
Inheritance: the result of down syndrome is the faulty gamete cell division and not inherited
Treatment: there is no cure for down syndrome however medical care is essential to down syndrome
Testing and Screening: babies born with down syndrome usually have physical characteristics that lead to a suspicion of the disorder.
Link to website: http://www.ygyh.org/
Polycystic kidney disease
Incidence: 1 in 500 to 1 in 1000 and is asymptomatic until 20s or 30s
Cause: caused by a mutation in 1 of 2 genes: pkd1 pkd2
Symptoms: this disease causes one of two forms of heart diseases and also causes high blood pressure
Inheritance: there is no inheritance
Treatment: there is currently no cure but there is a temporary solution and it is to replace the kidney
Testing and Screening: A genetic test an be done or an ultrasound and other imaging technologies are used to se the cysts.
Link to website: http://www.ygyh.org/
Cause: caused by a mutation in 1 of 2 genes: pkd1 pkd2
Symptoms: this disease causes one of two forms of heart diseases and also causes high blood pressure
Inheritance: there is no inheritance
Treatment: there is currently no cure but there is a temporary solution and it is to replace the kidney
Testing and Screening: A genetic test an be done or an ultrasound and other imaging technologies are used to se the cysts.
Link to website: http://www.ygyh.org/