Cystic Fibrosis has advanced with medical treatments and advocacy by patient groups such as the Cystic Fibrosis Foundation (CFF).

Short review of what is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease. This means that CF is inherited.

Mutations in a gene called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The CFTR mutations causes changes in the body’s cell’s electrolyte transport system. Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, such as mucus and sweat.

The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF.

A person will be born with CF only if 2 CF genes are inherited–one from the mother and one from the father.  An individual must inherit two non-functioning CF genes – one from each parent – to have CF. If both parents are carriers there is a 1 in 4 (25 percent) chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with cystic fibrosis.

A person who has only one CF gene is called a CF carrier. They are healthy and don’t have the disease. But they are a carrier of the disease.  See above box in specifics how much a infant is at risk getting the disease.

CF affects various organ systems in children and young adults, including the following:

• Respiratory system
• Digestive system
• Reproductive system

How does CF affect the respiratory system?

The abnormal electrolyte transport system in CF causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in the lungs to become very thick and hard to move. These thick secretions increase the risk for frequent respiratory infections.

Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs.

Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough, blood in the sputum, and often even have a collapsed lung. The cough is usually worse in the morning or after activity.

People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.

How does CF affect the gastrointestinal (GI) system?

CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.

The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.

The problems with the pancreas can become so severe that some of the cells in the pancreas die. Over time, this may lead to glucose intolerance and Cystic Fibrosis-Related Diabetes (CFRD), a unique type of insulin-dependent diabetes.

The symptoms of CF that may be due to involvement with the GI tract include:

• Bulky, greasy stools
• Rectal prolapse (a condition in which the lower end of the bowel comes out of the anus)
• Delayed puberty
• Fat in the stools
• Stomach pain
• Bloody diarrhea

The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:

• Enlarged liver
• Swollen belly
• Yellow color to the skin (jaundice)
• Vomiting of blood

How does CF affect the reproductive system?

Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can’t travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.

Who is at risk for cystic fibrosis?

Cystic fibrosis (CF) is inherited, and a person with CF had both parents pass the altered gene to them. The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF.

Symptoms can include with above symptoms the following:

All U.S. states require that newborns be tested for cystic fibrosis (CF). This means that parents can know if their baby has the disease and can take precautions and watch for early signs of problems.

The following are the most common symptoms of CF. However, people may experience symptoms differently, and the severity of symptoms can vary, too. Symptoms may include:

• Thick mucus that clogs certain organs, such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

Many other medical problems can point to cystic fibrosis, as well. These include:

Sinusitis, Nasal polyps, Clubbing of fingers and toes. This means thickened fingertips and toes because of less oxygen in the blood, Collapse of the lung often due to intense coughing, Coughing up blood, Enlargement of the right side of the heart due to increased pressure in the lungs (Cor pulmonale), Abdominal pain, Excess gas in the intestines, Rectal prolapse. In this condition, the lower end of the bowel comes out of the anus, Liver disease, Diabetes, Pancreatitis, or inflammation of the pancreas that causes severe pain in the belly, Gallstones, Congenital bilateral absence of the vas deferens (CBAVD) in males. This causes blockages of the sperm canal.

The symptoms of CF differ for each person.

Infants born with CF usually show symptoms by age 2. Some children, though, may not show symptoms until later in life. The following signs are suspicious of CF, and infants having these signs may be further tested for CF:

Diarrhea that does not go away, Foul-smelling stools, Greasy stools, Frequent wheezing, Frequent pneumonia or other lung infections, Persistent cough, Skin that tastes like salt, Poor growth despite having a good appetite.

The symptoms of CF may resemble other conditions or medical problems. See a healthcare provider for a diagnosis.

“Changes to the CFTR gene — called variants or mutations — cause cystic fibrosis. CFTR makes a protein that works as an ion channel on the surface of a cell. Ion channels are like gates in a cell’s membrane that allow certain molecules to pass through.

CFTR usually makes a gate for chloride ions, a type of mineral with a negative electrical charge. Chloride moves out of the cell, taking water with it, which thins out mucus and makes it more slippery. In people with CF, gene mutations in CFTR prevent this from happening, so the mucus stays sticky and thick.

There are different categories (classes I to VI) of gene mutation in CFTR that depend on the effect they have. Some produce no proteins at all, some produce only small amounts of proteins, and some produce proteins that don’t work properly.

Are you born with cystic fibrosis?

Yes, cystic fibrosis is a genetic condition that you’re born with. People who have CF inherit two mutated CFTR genes, one from each biological parent (it’s inherited in an autosomal recessive manner). “

Cleveland Clinic (Cystic Fibrosis: Causes, Symptoms & Treatment)

Cystic fibrosis (CF) is a genetic disorder that causes problems with the lungs=breathing and digestion sytem.  It can obstruct the pancreas. CF affects about 35,000 people in the United States. Cystic fibrosis (CF) can be life-threatening, and people with the condition tend to have a shorter-than-normal life span.   This diagnosis can have mucus that is too thick and sticky, which

• blocks airways and leads to lung damage;
• traps germs and makes infections more likely; and
• prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability to absorb nutrients from food.

Cystic fibrosis is a hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas. 

What is this disease?

“Tourette syndrome is a neurological (nervous system) tic disorder. It causes people to make sudden movements or sounds they can’t control. These are called tics. For example, someone with Tourette’s might blink or clear their throat over and over again. Some people may blurt out words they don’t intend to say (being just a noise or even a offensive word).

Some treatments may help control tics, but some people don’t need to take medications unless their symptoms bother them.

About 100,000 Americans have full-blown Tourette syndrome, but more people have a milder form of the disease. It often starts in childhood and affects more boys than girls. Symptoms often get better as children grow up. For some people, they go away completely.

Tourette syndrome is also sometimes called Tourette’s  or Tourette disorder.”

Web M.D. (Tourette Syndrome: Causes, Symptoms, and Treatment)

Tourette (too-RET) syndrome is a disorder that involves repetitive movements or unwanted sounds (tics) that can’t be easily controlled. For instance, you might repeatedly blink your eyes, shrug your shoulders or blurt out unusual sounds or offensive words.

Tics typically show up between ages 2 and 15, with the average being around 6 years of age. Males are about three to four times more likely than females to develop Tourette syndrome.

Although there’s no cure for Tourette syndrome, treatments are available. Many people with Tourette syndrome don’t need treatment when symptoms aren’t troublesome. Tics often lessen or become controlled after the teen years.

SYMPTOMS:

Tics — sudden, brief, intermittent movements or sounds — are the hallmark sign of Tourette syndrome. They can range from mild to severe. Severe symptoms might significantly interfere with communication, daily functioning and quality of life.

Tics are classified as:

• Simple tics. These sudden, brief and repetitive tics involve a limited number of muscle groups.
• Complex tics. These distinct, coordinated patterns of movements involve several muscle groups.

Tics can also involve movement (motor tics) or sounds (vocal tics). Motor tics usually begin before vocal tics do. But the spectrum of tics that people experience is diverse.

In addition, tics can:

• Vary in type, frequency and severity
• Worsen if you’re ill, stressed, anxious, tired or excited
• Occur during sleep
• Change over time
• Worsen in the early teenage years and improve during the transition into adulthood

Before the onset of motor or vocal tics, you’ll likely experience an uncomfortable bodily sensation (premonitory urge) such as an itch, a tingle or tension. Expression of the tic brings relief. With great effort, some people with Tourette syndrome can temporarily stop or hold back a tic.

See your child’s pediatrician if you notice your child displaying involuntary movements or sounds.

Not all tics indicate Tourette syndrome. Many children develop tics that go away on their own after a few weeks or months. But whenever a child shows unusual behavior, it’s important to identify the cause and rule out serious health problems.

“Bladder cancer is categorized by a number of types, depending on where exactly it forms, along with other factors. The most common type of bladder cancer is transitional cell (urothelial) carcinoma (TCC). This type accounts for about 95 percent of bladder cancers. Cancer cells of this type look like the urothelial cells lining the inside of the bladder.”

The City of Hope (Types of Bladder Cancer: Common, Rare and More)

The differences between UTUC, Small cell carcinoma, squamous cell carcinoma, adenocarcinoma, and NMIBC and Urothelial Carcinoma of the Bladder are as follows:

• UTUC (Urothelial Carcinoma of the Ureter): Develops in mesoderm-derived epithelium and has lymphatic drainage patterns that vary by anatomical location.
• Small cell carcinoma: Has oat-grain shaped cells and is found in cancers like lung, prostate, and pancreatic neuroendocrine tumors.
• Squamous cell carcinoma: Cells look flat and are often arranged like tiles on a floor.
• Adenocarcinoma: Arises from glandular cells and is found in organs like the lungs, breast, and colon.
• NMIBC (Non-Malignant Invasive Bladder Carcinoma): A precursor lesion that is not yet malignant but may progress to bladder cancer.

NMIBC and Urothelial Carcinoma of the Bladder

About 9 out of 10 bladder cancers are urothelial carcinoma (also called transitional cell carcinoma). They start in the cells on the surface of the bladder’s inner linings. Most urothelial carcinomas are a form of non-muscle invasive bladder cancer (NMIBC). That means the tumor stays within the bladder’s inner lining.

Urothelial carcinoma also has rarer subtypes, called variants. Each one has a different treatment. We identify the variant based on how the cells look under a microscope. The variants are called:

• Plasmacytoid
• Nested
• Micropapillary
• Lipoid cell
• Sarcomatoid
• Microcystic
• Lymphoepithelioma-like
• Inverted papilloma-like
• Clear cell

Cancer occurs when cells in the bladder start to grow out of control. Most tumours develop on the inner layer of the bladder. Some can grow into the deeper bladder layers. As cancer grows through these layers into the wall, it becomes harder to treat. The lining, where tumours initiate, is also found in the inner layers of the kidneys, ureters, and urethra. So, similar cancers can occur in these areas, though much less frequently.

Three types of bladder cancer may form, and each type of tumor can be present in one or more areas of the bladder, and more than one type can be present at the same time:

• Papillary tumors stick out from the bladder lining on a stalk. They tend to grow into the bladder cavity, away from the bladder wall, instead of deeper into the layers of the bladder wall.
• Sessile tumors lie flat against the bladder lining. Sessile tumors are much more likely than papillary tumors to grow deeper into the layers of the bladder wall.
• Carcinoma in situ (CIS) is a cancerous patch of bladder lining, often referred to as a “flat tumor.” The patch may look almost normal or may look red and inflamed. CIS is a type of nonmuscle-invasive bladder cancer that is of higher grade and increases the risk of recurrence and progression. At diagnosis, approximately 10% of patients with bladder cancer present with CIS.

While the majority of bladder cancers (approximately 90-95%) arise in the bladder, the urothelial cells that line the bladder are found in other locations in the urinary system. Sometimes these urothelial cancers can occur in the lining of the kidney or in the ureter that connects the kidney to the bladder. This is known as upper tract urothelial cancer (UTUC) correspond to a subset of urothelial cancers that arise in the urothelial cells in the lining of the kidney (called the renal pelvis) or the ureter (the long, thin tube that connects that kidney to the bladder).

Upper Tract Urothelial Carcinoma, or UTUC, is urothelial carcinoma that occurs in the renal pelvis or ureter(s). Approximately 5-7% of urothelial cancer can occur in the inner lining of the kidney, called the calyx and renal pelvis. It could also occur in one or both of the ureter(s), tubes that lead from each of your kidneys to the bladder.

Types of urothelial carcinoma:

• Non-invasive: More than half the people have this type, where the cancer remains in the urothelial cells that line the renal pelvis or ureters.
• Invasive: the rest have this type, where the cancer has grown beyond those urothelial cells. Or it may have spread to other parts of the body.

Just as with bladder cancer, UTUC tumors can be low grade or high grade. The grade of the UTUC is important to know as you and your doctor choose the best treatment for your cancer. The grade of the tumor is determined by a pathologist who examines the cells under a microscope. Doctors may also use imaging studies to help them stage UTUC.

• Low grade UTUC: In low grade UTUC, the tumors are typically noninvasive and are less aggressive.
• High grade UTUC: High grade UTUC can be more aggressive. It may spread to other parts of your urinary tract, or to other parts of your body.

Ask your doctor to explain the details about your diagnosis and pathology report.

Understanding your UTUC combined with your overall health, will help your doctor recommend the best treatment options for your cancer.

Urothelial carcinoma (yoo-REE-thrul KAR-sih-NOH-muh) is by far the most common type of bladder cancer in the United States. Others are rarer. This section has information on some of these rarer types. Some rare bladder cancers are more common outside of the United States.

Squamous Cell Carcinoma of the Bladder

This cancer begins in the thin, flat squamous cells that can form in the bladder after chronic inflammation (swelling) and infection. It’s most often found in areas, such as the Middle East, where a parasitic infection called schistosomiasis is common. In North America and Europe, squamous cell carcinoma is the second most common bladder cancer. It accounts for about 5 out of every 100 cases.

Adenocarcinoma of the Bladder

This rare form of bladder cancer accounts for about 1 out of every 100 cases of the disease. denocarcinoma (A-deh-noh- KAR-sih-NOH-muh) can be caused by certain bladder problems you’re born with. It’s also caused by chronic infection and inflammation.

Small Cell Carcinoma of the Bladder

This form of the disease can spread very quickly. It’s often, but not always, found at an advanced stage, after it has metastasized (spread). Small cell bladder cancers usually need a combination of treatments, including chemotherapy, surgery, and radiation therapy.

Small cell carcinoma starts in small, nerve-like cells in the bladder called neuroendocrine (NOOR-oh-EN-doh-krin) cells. It makes up about 1 out of every 100 cases of bladder cancers.

Facts on Bladder Cancer:

• “In the U.S., about 53,000 men are diagnosed annually, with over 10,000 deaths each year
• It is the fourth most common internal malignancy in American men and one of the top 10 deadliest cancers
• The CDC estimates 85,000 new cases and 16,840 deaths in the U.S. each year
• It is the sixth most common cancer overall in the U.S.”

Harvard Health Publishing (Bladder Cancer: Men at Risk – Harvard Health Publications – Harvard Health)