By: Klyddene Bangalisan

Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician who was the first person to identify cystic fibrosis and the first American physician to describe the disease.

What is cystic fibrosis

Cystic fibrosis or CF, is an inherited disease of the secretory glands. Secretory glands include glands that make mucus and sweat.

"Inherited" means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don't have the disease themselves.

CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

What causes cystic fibrosis

A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat

Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF.

More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease.

How Is Cystic Fibrosis Inherited

Every person inherits two CFTR* genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.

Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF.

*CTFR-cystic fibrosis transmembrane regulator

Example of an Inheritance Pattern for Cystic Fibrosis

• The image shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene—one from each parent. If each parent has a normal CFTR gene and a faulty CFTR gene, each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one faulty gene; and a 25 percent chance of inheriting two faulty genes.

Who Is at Risk for Cystic Fibrosis

Cystic fibrosis (CF) affects both males and females and people from all racial and ethnic groups. However, the disease is most common among Caucasians of Northern European descent.

CF also is common among Latinos and American Indians, especially the Pueblo and Zuni. The disease is less common among African Americans and Asian Americans.

More than 10 million Americans are carriers of a faulty CF gene. Many of them don't know that they're CF carriers.

What Are the Signs and Symptoms of Cystic Fibrosis

The signs and symptoms of cystic fibrosis (CF) vary from person to person and over time. Sometimes you'll have few symptoms. Other times, your symptoms may become more severe.

One of the first signs of CF that parents may notice is that their baby's skin tastes salty when kissed, or the baby doesn't pass

Men who have CF are infertile because they're born without a vas deferens. The vas deferens is a tube that delivers sperm from the testes to the penis.

Women who have CF may have a hard time getting pregnant because of mucus blocking the cervix or other CF complications.

Figure A shows the organs that cystic fibrosis can affect. Figure B shows a cross-section of a normal airway. Figure C shows an airway with cystic fibrosis. The widened airway is blocked by thick, sticky mucus that contains blood and bacteria.

How Is Cystic Fibrosis Diagnosed

Newborn Screening

• The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly.

Sweat Test• If a genetic test or blood test suggests CF, a

doctor will confirm the diagnosis using a sweat test external link icon. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat.

Cystic Fibrosis Carrier Testing

• A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.

How Is Cystic Fibrosis Treated

Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:

Preventing and controlling lung infections

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•Preventing or treating blockages in the intestines

•Providing enough nutrition

•Preventing dehydration (a lack of fluid in the body)

POLYCYSTIC KIDNEY DISEASE

Polycystic kidney disease was discovered by Richard Bright, a British medical researcher and physician. He is widely known for his research on various kind of pioneering works in the research of kidney diseases with Polycystic kidney disease being one of them.

What is polycystic kidney disease

Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys. Cysts are noncancerous round sacs containing water-like fluid. The cysts vary in size and, as they accumulate more fluid, they can grow very large.

What are the causes of PKD

Abnormal genes cause polycystic kidney disease, and the genetic defects mean the disease runs in families. Rarely, a genetic mutation can be the cause of polycystic kidney disease.

There are two types of polycystic kidney disease, caused by different genetic flaws:

autosomal dominant

PKD

• a form that usually causes symptoms in adulthood• -Signs and symptoms of ADPKD often develop

between the ages of 30 and 40. In the past, this type was called adult polycystic kidney disease, but children can develop the disorder. Only one parent needs to have the disease in order for it to pass along to the children. If one parent has ADPKD, each child has a 50 percent chance of getting the disease. This form accounts for about 90 percent of cases of polycystic kidney disease.

There are two types of polycystic kidney disease, caused by different genetic flaws:

autosomal recessive

PKD

• a rare form that usually causes symptoms in infancy and early childhood• -This type is far less common than is ADPKD. The signs and

symptoms often appear shortly after birth. Sometimes, symptoms don't appear until later in childhood or during adolescence. To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. Two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who also is a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right).

Note: In some cases, a person with ADPKD has no known family history of the disease. However, it's possible that someone in the affected person's family actually did have the disease, but didn't show signs or symptoms before dying of other causes.

What Are the Signs and Symptoms of PKD

pain in the back and

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headaches

urinary tract

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blood in the urine

cysts in the

kidneys and other

organs

How Is PKDDiagnosed

Ultrasound exam.

• During an ultrasound, a wand-like device called a transducer is placed on your body. It emits inaudible sound waves that are reflected back to the transducer — like sonar. A computer translates the reflected sound waves into images of your kidneys.

Computerized tomography (CT) scan.

• As you lie on a movable table, you're guided into a big doughnut-shaped device that projects very thin X-ray beams through your body. Your doctor is able to see cross-sectional images of your kidneys.

Magnetic resonance

imaging (MRI) scan.

• As you lie inside a large cylinder, magnetic fields and radio waves generate cross-sectional views of your kidneys.

PKD has no cure.Treatment includes:

medicine to control high blood pressure

medicine and surgery to reduce pain

antibiotics to resolve infections

dialysis to replace functions of failed kidneys

kidney transplantation

How Is PKDprevented

If you have polycystic kidney disease and you're considering having children, a genetic counselor can help you assess your risk of passing the disease to your offspring.

Keeping your kidneys as healthy as possible may help prevent some of the complications of this disease. One of the most important ways you can protect your kidneys is by managing your blood pressure.

Take the blood pressure medications prescribed by your doctor as directed.

Eat a low-salt diet containing plenty of fruits, vegetables and whole grains.

Maintain a healthy weight. Ask your doctor what the right weight is for you.

Quit smoking, if you're a smoker.

Exercise regularly. Aim for at least 30 minutes of moderate physical activity most days of the week.

HEREDITARY SPHEROCYTOSIS

What is HereditarySpherocytosis

Spherocytosis, is an inherited disease that destroys red blood cells. This destruction of the red blood cells causes anemia.

In spherocytosis the red blood cells are very round and have difficulty changing this shape. The lack of ability to change shapes makes moving through the small blood vessels difficult. Therefore, the red blood cells stay in the spleen longer than normal. This lengthy stay in the spleen damages the cell membranes

HS is a common cause of hemolysis and hemolytic anemia.

It is the most common inherited abnormality of the RBCs membrane.

Hereditary spherocytosis, the most frequent of the familial anemias, is inherited as an autosomal dominant trait; it is most common among people of northern European . The disease is most often identified during childhood or adolescence. Prevalence: approximately 1/5000 people

What Are the Signs and Symptoms of HereditarySpherocytosis

How Is HereditarySpherocytosisDiagnosed

Your doctor will ask you about your family and medical history. He or she will also want to know about the symptoms you’ve been experiencing. A physical exam may be performed as well. This will involve your doctor checking for an enlarged spleen, which is usually done by simply pressing on your abdomen.

It’s likely that your doctor will also draw your blood for analysis. A complete blood count test will check your red blood cell levels and the number of immature red blood cells you have. A high number of immature red blood cells can indicate hereditary spherocytosis. The shape of the red blood cells will also be indicative of the disorder.

Your blood might be viewed under a microscope, which lets your doctor see the shape of your cells. He or she may also order tests that check your bilirubin levels.

How Is HereditarySpherocytosisTreated

Doctors can cure the symptoms of hereditary spherocytosis by removing your spleen. Some mild cases can be treated without surgery. The severity of your symptoms will determine which course of treatment you receive.

• A splenectomy is the most common course of treatment for hereditary spherocytosis. Because your red blood cells are damaged in the spleen, removal of the spleen allows doctors to cure your anemia. Your red blood cells will still have their spherical shape but will live longer.

Surgery

• Not everyone with this condition needs to have his or her spleen removed. Your doctor might think less invasive measures are better suited to your case. For example, surgery is not recommended for children under the age of 5, so your child’s doctor may put him or her on a folic acid supplement. Folate is a form of B vitamin that your body needs to produce red blood cells.

Other Treatment Methods