PKD Update

Today is Saturday already. We have had a busy week running running running. Next week will be much of the same. Nicholas sees the Neph. on Monday. For this we travel to Texas Children's Hospital. He is still having quite a bit of chest pain and his b/p is remaining high even after starting meds. I am assuming the Neph. will increase his med and push for the
echo cardiogram. It has been 3 and a half years since his original diagnosis. He has always been very upbeat about everything even encouraging me when I get down. His theory is "not everyone can have great health". He has also started having back pain frequently again. Both of our Nephs tend to tell us that our constant pain is not PKD related but....anyone associated with this disease KNOWS better. Our daughter,Victoria, who is 8 has PKD as well, howbeit does not have an 'official' diagnosis due to insurance purposes. We are simply monitoring her b/p and watching for any other signs. The National Walk for PKD is taking place on September 20 and we are sure hoping to be there to participate. This walk is designed to raise money for PKD research.

What is PKD?
Polycystic Kidney Disease affects 1 in 500 people, including newborns, children and adults regardless of sex, age, race or ethnic origin. It comes in two forms: 1. Autosomal dominant (ADPKD), one of the most common life-threatening genetic diseases. ADPKD affects between 1 in 500 people. It does not skip a generation. There is usually a family history of ADPKD. Parents with ADPKD have a 50 percent chance of passing the disease on to each of their children.2. Autosomal recessive (ARPKD), is a rare genetic disorder, occurring in approximately 1 in 20,000 individuals. It affects boys and girls equally and often causes significant mortality in the first month of life.

A normal kidney is the size of a human fist and weighs about a third of a pound. However, with the presence of PKD, cysts develop in both kidneys. When many cysts develop, the kidneys can grow to be the size of a football or larger and weigh as much as 38 pounds each. There may be just a few cysts or many, and the cysts may range in size from a pinhead to the size of a grapefruit.
There is currently no treatment or cure for PKD, but you can help change that by getting involved with us in the fight against PKD:
Donate for PKD
Become a PKD Advocate
Volunteer in your Community
How does a person get PKD?
ADPKD: Because PKD is a genetically-inherited disorder, the dominant form of the disease (ADPKD) is passed from one generation to the next by an affected parent. Each child of an ADPKD parent has a 50% chance of inheriting the disease. Scientists have also discovered that approximately 10 percent of the PKD patient community became affected through spontaneous mutation.

The goal in curing a genetically-inherited disease is to find the abnormal protein and try to fix it. There is more than one gene that causes ADPKD; there are at least three. About 80% of people with ADPKD have the ADPKD1 gene, located on chromosome 16. Most of the rest of the ADPKD population has the ADPKD2 gene located on chromosome 4. The location of the ADPKD3 gene has not as yet been determined.

It appears that diseases caused by the ADPKD1 and ADPKD2 genes are different. With the ADPKD1 gene, cysts form at an earlier age, there appears to be an earlier onset of high blood pressure and earlier loss of kidney function, compared to the ADPKD2 gene.

The risk of having a child who inherits the affected chromosome is 50% with each pregnancy, no matter how many children a person has. In some families, all the children are affected; in other families, none are. Many families with multiple children will have affected and unaffected children.

ARPKD: This recessive disease requires a mutated gene from each parent for the disease to manifest in a child, who has, then, 2 mutated genes. There is no family history of the disease, and the parents do not have the disease themselves.
What are the symptoms of PKD?
Early in the disease, patients often experience no symptoms. In fact, many people are never diagnosed with ADPKD because they have so few or no symptoms.

Symptoms of PKD:
High blood pressure
Chronic pain or heaviness in the back, sides or abdomen
Blood in the urine
Urinary tract infection (UTI)
Kidney stones

High blood pressure, or hypertension, affects about 60% to 70% of people with ADPKD. High blood pressure begins early during the course of ADPKD. In ADPKD it seems that the most likely reason for high blood pressure is the constricting of blood vessels. Cysts can press on blood vessels in the kidney, resulting in decreased blood flow. Sensors in the nephron react as though the blood pressure in the kidney is low. Renin is then secreted, which in turn generates angiotensin, constricting the blood vessels, and causing high blood pressure. If not treated, hypertension damages the kidneys, enlarges the heart and can cause strokes.

Chronic pain or heaviness is one of the most common problems for people with ADPKD. The pain is usually in the back or the side and occasionally in the abdomen. The pain can be intermittent and mild requiring only occasional mild pain medicine such as acetaminophen. In a small number of people, the pain can be constant and quite severe.

Hematuria, or blood in the urine, is something that nearly 50% of those with ADPKD will experience. The urine may look pink, red or brown. Passing small amounts of red blood cells in the urine that can only be seen under a microscope may also occur. This is called microscopic hematuria. Blood in the urine can last for a day or less or the bleeding may go on for days. Strict bed rest, increased fluid intake, and acetaminophen (if there is pain) are usually the treatments if the bleeding is prolonged.

Urinary tract infection (UTI) is an infection caused by bacteria that have reached the bladder, kidneys or the cysts themselves. The infection usually starts in the bladder and can progress up the ureters into the kidneys. Although both men and women have UTIs, they are far more common in women. UTIs are common in the general population, but they appear to be more frequent in those with ADPKD. The most common symptom of UTI is pain or burning with urination and/or an urgent need to urinate even though there is only a small amount of urine. When the infection is in the kidney or in a cyst, there may be a sudden onset of fever, chills and back or flank pain.

Kidney stones occur in about 20%-30% of people with ADPKD, compared to 8%-10% in the general population. One reason kidney stones are more common may be due to cysts blocking the tubules, preventing normal drainage. When the urine stays in one area longer than it should, crystals can form and cause kidney stones. Another reason that stones may form in some people with ADPKD is that there is a decrease in urine citrate. Urine citrate is a substance that prevents formation of kidney stones. The symptoms of kidney stones are severe pain in the back, side or into the groin. Often there will be blood in the urine when passing a kidney stone.
What are cysts?
A cyst in the kidney begins similar to a blister as an out-pouching of the nephron. Cysts can occur anywhere on the length of the nephron. Although polycystic means “many cysts”, not every nephron forms cysts. The fluid inside the cysts often reflects the area in the nephron from which the cyst arose.

Approximately 70% of cysts detach from the nephron when they are still small, about 2 mm (1/8 inch) in diameter. Over time, the cysts enlarge and can become filled with clear fluid or fluid that contains blood or white blood cells.

Cysts can form in other organs, as well as the kidney; the most common other siteis the liver. Current research suggests that liver cysts are associated with the bile ducts or tubules of the liver rather than liver cells themselves. It appears that rather than take the place of functioning liver cells, cysts merely push the liver cells aside. This is why liver cysts don't cause liver failure even though the liver can become quite enlarged due to cysts.

Research has shown that there are at least three components to cyst formation:
1. Cell proliferation: The cells of a cyst wall reproduce themselves more than normal kidney cells. This makes the cysts grow in size. 2. Cellular secretion: Secretion is a way of making fluid. To form a cyst, the cells themselves must produce fluid. If there were no fluid produced to fill the cyst, there would merely be a ball of cells. 3. Abnormal basement membrane: The basement membrane is a very thin layer of tissue the cyst cells sit on. In ADPKD this layer is thicker than usual.

In general, cysts cause problems because of their size and the space they occupy. The size of the kidneys and liver is directly related to how many and how big the cysts are. For example, people with kidneys over 15 cm (6 inches) are more likely to have pain than people with smaller kidneys.
What are complications of PKD?
ADPKD is not just a kidney disorder; other organs can be affected, including the liver, spleen, pancreas, vasculature, testes, seminal vesicles and intestines.

60%-70% of people with ADPKD have cysts in the liver during their lifetime. Liver cysts rarely occur in those under the age of 30 but do form and increase as a person ages. Even though there is an increase in liver size, the amount of functional liver tissue remains fairly constant. Liver cysts occur as often in men as in women. However, women have liver cysts at a younger age than men and usually have more aggressive liver disease. Women who have been pregnant are more likely to have liver cysts; and the cysts are more numerous and larger in women who have been pregnant compared to women who have not been pregnant.

Cardiovascular complications include high blood pressure, cerebral aneurysms and mitral valve prolapse (MVP), a condition where the valve separating the top and the bottom of the left side of the heart does not close properly. Sometimes this causes blood to leak back to the top part of the heart. This is called regurgitation and can be heard as a heart murmur. MVP occurs in approximately 26% of the people who have ADPKD compared to 2%-3% of the general population. Symptoms that can be associated with MVP are palpitations, a feeling that the heart is running away or that there are extra beats in the heart, and chest pain that is not associated with exercise or exertion.

People with ADPKD have about a 5%-10% risk of developing intracranial aneurysms; the percentage is higher if there is a family history of aneurysms. People who have ADPKD and a family history of aneurysm should be evaluated yearly. An aneurysm is an out-pouching in a blood vessel. Intracranial aneurysms occur in the blood vessels of the brain. Aneurysms can leak or rupture. In these events the symptoms can include sudden severe headache, pain in moving the neck, nausea and vomiting, and even loss of consciousness. All such symptoms require immediate medical attention.

Gastrointestinal complications with PKD include inguinal and umbilical hernias and diverticulitis. Inguinal hernias are out-pouchings in the area of the groin and umbilical hernias are out-pouchings at or near the navel. Diverticula are out-pouchings on the large intestine (colon). It seems that people with ADPKD who are on dialysis or have had a transplant have diverticula more often and have more complications from diverticula, including infection, than people who have other kidney diseases.


I know this has been a rather long post with a lot of information, but I pray it will somehow give a bit of knowledge to those interested enough to read .