Cystic fibrosis affects 1 in every 2,500 to 3,500 babies born in the United States and affects more than 30,000 people living in the United States today. It is one of the most common, life-threatening inherited disease in the US, and is most common in white people of Northern European ancestry, but it affects people from all racial groups.
About 1 in 4 people with cystic fibrosis are Hispanic or Latino.
Approximately 1,000 new cases of cystic fibrosis are diagnosed in the United States each year. About 50 percent of the cases are diagnosed in white children, 20 percent are diagnosed in black children, and 30 percent are diagnosed in other ethnicities, including Latinos.
Cystic fibrosis is caused by a mutated gene that affects the transportation of salt and water in and out of cells in the body, causing a buildup of thick mucus in the lungs, digestive system, and other organs.
If both parents carry a copy of the defective gene, there is a 25 percent chance of a child developing the condition with each pregnancy. Unfortunately, there is no cure for cystic fibrosis, but many treatments are available to help manage the symptoms.
What population is cystic fibrosis most common in?
Cystic fibrosis is most common in Caucasian populations, followed by Hispanic, African American, and Asian populations. In the United States, approximately one in every 3,300 babies born is diagnosed with cystic fibrosis.
The mutation causing cystic fibrosis is most prevalent in Northern European populations and is particularly common among people of Irish descent. According to the Cystic Fibrosis Foundation, approximately one in every 17 individuals of Northern European ancestry is a CF carrier—meaning that he or she carries the CF genetic mutation, but does not have the disease.
The mutation is less common in other ethnicities, including African American, Hispanic, and Asian populations. In the United States, cystic fibrosis occurs in about 1 in 60,000 newborns of African ancestry.
Similarly, cystic fibrosis occurs in just 1 in 100,000 Hispanic newborns and is rare among newborns in Asian populations. Worldwide, cystic fibrosis is most common among Caucasians, but it occurs in all racial and ethnic backgrounds.
Which parent passes down cystic fibrosis?
Cystic fibrosis (CF) is an inherited genetic disorder that affects the lungs, digestive system, and other organs in the body. CF is passed down through families and is caused by a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Both parents must pass down a defective copy of the gene for a child to have CF. If a parent has a defective copy of the CFTR gene, then there is a 50 percent chance of passing down the gene with each pregnancy.
The defective gene has two main variants, known as F508del and G551D. If both parents have a copy of the same variant, such as two copies of the F508del variant, then the child will have two identical defective copies of the gene, known as a compound heterozygous mutation, and will have a higher risk of having a more severe form of CF.
If both parents have different variants of the defective gene, such as one F508del and one G551D, then the child will have one copy of each variant, which is known as a heterozygous mutation and is associated with a milder form of CF.
It is important to note that not all people with CF have inherited the same variant of the gene. In some cases, a person can inherit a new mutation that has not been found in their family before. In other cases, there could be more than two variants of the gene in one family, which can make it more challenging to predict how severe the CF will be in a particular individual.
Why can’t men with CF have kids?
Men with cystic fibrosis (CF) cannot have children because the genetic mutation that causes CF is passed down from parents to children. CF is caused by a mutation in the CFTR gene, which is found on chromosome 7.
The CFTR gene makes a protein that helps control the movement of salt and water in and out of cells. Males with CF have two copies of this mutated gene, which recessively affects their reproductive health.
The mutated gene affects sperm quality and function, leading to fertility problems and increasing the risk of miscarriage and stillbirth in pregnancies. Additionally, men with CF may have infertility issues due to the accumulation of thick, sticky mucus that builds up in the reproductive organs.
This often leads to blockage of the tubes and impaired sperm production. For these reasons, men with CF typically can’t have children naturally.
Are all males with CF infertile?
No, not all males with cystic fibrosis (CF) are infertile. While most men with CF are unable to naturally father children, this is not always the case. In fact, with advances in medical technology, fertility options have recently become available for men with CF.
While the majority of men with CF are still unable to father a child naturally, advances in science have allowed some to do so. In vitro fertilization (IVF) is the main option available to men with CF.
During this process, eggs are harvested from the woman’s ovaries, then combined with the man’s sperm in a laboratory setting to create an embryo. The embryo is then transferred to the woman’s uterus.
In addition, fertility treatments can also help to enhance sperm production and quality in men with CF. While these advances offer hope for those wishing to conceive, it is important to note that many other factors can still be an obstacle for conception for men with CF.
These may include cystic fibrosis related diabetes, the level of their lung function, and a variety of other factors.
Should a woman with cystic fibrosis have a baby?
When considering whether a woman with cystic fibrosis (CF) should have a baby, there are many factors to consider. The decision should be made thoughtfully and in consultation with a medical team familiar with the particular patient’s health situation.
Having a baby can be a physically demanding experience for a woman with CF, so it is important for women to be in good health during the pregnancy. A woman should also consider her overall health and risk of exacerbations.
Women with CF should discuss their specific circumstances and related risks with their physician before getting pregnant. If the woman’s lung function is low, the risk of complications is higher than if the lung function is normal.
At this time, there is no evidence that having a baby will have a negative impact on the health of the mother with cystic fibrosis. However, women with the disease should take extra precautions to reduce the risk of infection.
This includes taking appropriate medication, undergoing extra tests to monitor their health, and avoiding contact with anyone who has a contagious condition. Additionally, women with CF should discuss any fertility needs they may have with their doctor.
In many cases, a woman with CF can have an uncomplicated pregnancy, as long as she takes precautions, follows her doctor’s advice, and obtains care from a CF specialist. Ultimately, a woman’s decision whether to have a baby should be based on her individual health situation and fertility needs, as well as her personal preferences and desires.
Does race matter in cystic fibrosis?
Yes, race does matter when it comes to cystic fibrosis because certain racial groups have a higher incidence rate of the disease. Caucasians of European ancestry have the highest rate of cystic fibrosis, with 1 in 3,500 newborns in this group being diagnosed with the condition.
Afro-Caribbeans have a lower rate of 1 in 15,700, while Asian and African populations have the lowest rates at 1 in 31,900 and 1 in 60,000 respectively. In addition, certain racial groups are more likely to have certain forms of cystic fibrosis.
For example, Caucasians of European ancestry are more likely to have the Delta F508 mutation, while African Americans and Latin American populations are more likely to have the G551D mutation. Other racial variations in the onset, severity, and response to treatment of the disease have also been found.
So overall, race does matter in cystic fibrosis as certain racial groups have a greater likelihood of having the disease, certain forms of the disease, and greater variations in its onset, severity, and response to treatments.
Is CF inherited from mother or father?
Cystic Fibrosis (CF) is a genetic disorder that is passed down from a person’s parents. It is an autosomal recessive disorder, meaning that both the mother and the father must pass down a mutated gene in order for a person to be affected by it.
Every person has two copies of each gene – one copy from their mother, and one copy from their father. Therefore, if both of a person’s parents carry a mutated copy of the CFTR gene, the child has a 25% chance of inheriting the mutated gene from both parents and having CF.
If only one parent has the CFTR gene mutation, the child has a 50% chance of inheriting it, and will be a “carrier” – meaning that the child does not have CF, but could pass it on to their own children.
Why are Caucasian susceptible to cystic fibrosis?
Caucasians are more susceptible to cystic fibrosis for a number of genetic reasons. Cystic fibrosis is caused by mutations of a gene called the Cystic Fibrosis Transmembrane Regulator (CFTR), which is a chloride channel that regulates the movement of chloride ions across the cells of the body.
One of the most common mutations of this gene is called the Delta F508 mutation, which occurs in 1 in 25 people of Caucasian descent. This mutation results in the formation of abnormal copies of the CFTR protein and can lead to the development of cystic fibrosis.
Another reason why Caucasians are more prone to developing cystic fibrosis is due to their genetic history. Many people of European descent have a long history of intermarriage, resulting in a convergence of certain genes and an increase in homozygosity- meaning that they have inherited the same genes from both parents.
This homozygosity can increase the likelihood of inheriting two copies of a mutation in a gene, leading to a higher risk of developing the disease.
In addition to the genetic factors, environmental factors can also be a contributing factor to why Caucasians are more susceptible to cystic fibrosis. Specifically, the cumulative exposure to air pollutants and other environmental toxins over many years can disrupt the action and expression of the CFTR gene, leading to increased susceptibility of developing cystic fibrosis.
Overall, Caucasians are more susceptible to developing cystic fibrosis due to a combination of genetic and environmental factors which are unique to their population.
At what age do cystic fibrosis symptoms start?
Cystic fibrosis symptoms typically start at any age from infancy to adulthood, though the symptoms may vary depending on the severity of the condition. In infants, symptoms may include frequent breathing issues, such as coughing or wheezing, poor weight gain or difficulty gaining weight, and salty-tasting skin from excessive mucus in the lungs.
As the condition progresses, additional respiratory symptoms, including persistent coughing with mucus, recurrent lung infections, shortness of breath, and tightness in the chest may also be present.
Additionally, some patients may experience symptoms outside of the respiratory system, such as frequent greasy, bulky stools, nutrient deficiencies, and delayed puberty. Ultimately, the symptoms of cystic fibrosis and the age of onset depend on the type of mutation present, therefore the best way to determine an individual’s age of onset is to consult with their doctor.
What are the first signs of cystic fibrosis in adults?
The first signs of cystic fibrosis in adults may vary, but common early signs and symptoms include persistent cough, frequent lung infections, including bronchitis or pneumonia, unexplained weight loss, worsening difficulty breathing, decreased stamina, salty tasting skin, abdominal pain or discomfort, frequent, greasy, bulky and particularly foul-smelling stools, and infertility.
In addition, the sweat of an adult with cystic fibrosis may become abnormally salty. In general, the earlier an adult is diagnosed with cystic fibrosis, the better the outcome. For this reason, anyone with any of these symptoms should seek medical attention right away.
Early diagnosis and treatment of cystic fibrosis can improve health, delay decline, and extend life.
What are cystic fibrosis patients at risk for?
Cystic fibrosis (CF) is a debilitating progressive genetic disorder that leads to chronic and often life-threatening medical problems. CF affects the lungs and other organs, for which CF patients are at risk of a variety of medical problems.
Common issues include breathing difficulties, problems gaining and maintaining adequate nutrition and hydration, fatigue, recurring lung infections, and blockages in the digestive system.
In the lungs, a thick mucus produced by the cystic fibrosis chromosome can block air passages, leading to a buildup of bacteria and frequent infections. This can affect a person’s ability to breathe and, over time, can cause lung damage.
CF patients are also at risk for sinus and ear infections.
CF patients are also at risk for gastrointestinal problems, including blockages in the intestines, which can cause major nutritional deficiencies and malabsorption issues. The digestive system also produces less fat-soluble vitamins, so Vitamin A, D, E, and K supplements may be necessary.
Too, CF patients are at risk of developing blocks in the gallstones, which can further affect their ability to absorb fat-soluble vitamins.
In addition, CF patients are at risk of developing a serious and, potentially, fatal complication called pneumothorax (collapsed lung) which occurs when air leaks into the pleural space or the space between the lungs and the chest wall.
This can cause severe chest pain and shortness of breath, and must be treated with a breathing tube and/or surgery.
CF patients are also at risk of developing bone malformations and fractures, cardiovascular problems, and occupational and fertility issues. Early diagnosis and effective treatment of CF can greatly reduce these risk.
What is the life expectancy of a CF patient?
The life expectancy of a Cystic Fibrosis (CF) patient varies greatly depending on several factors, including age, severity of the disease, and treatments received. According to the Cystic Fibrosis Foundation, the median predicted survival age for CF patients born in the United States in 2014 was 47.
2 years. However, this number has been steadily increasing due to recent medical advancements and treatments.
In recent decades, advances in medical treatments have made it possible for people with CF to live to much older ages than previously expected. For example, extended-release medications, airway clearance systems, antibiotic therapies, and improved nutrition/diet/nutrition therapy are all advancements that have increased the median life expectancy of CF patients over the last few decades.
As of 2018, the oldest living CF patient in the United States is 73 years old.
The life expectancy of each individual with CF depends on many factors. Some may have milder forms of the disease and live longer, while others may have more severe forms and die earlier. It is important for patients with CF to prioritize their health and closely follow their doctor’s advice for achieving the best outcomes.
Overall, the life expectancy of CF patients is continually increasing, and treatments continue to make life with CF easier and longer.