Friday, July 5, 2013

Polycystic Kidney Disease

Normally, the kidneys filter toxic substances and fluid from the blood. In people with polycystic kidney disease, they become enlarged with multiple cysts that interfere with normal kidney function.This can sometimes lead to kidney failure and need for dialysis or kidney transplantation.

There are two major forms of polycystic kidney disease: autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease.



Autosomal dominant polycystic kidney disease (ADBPB) is a common disorder that occurs in 1 in every 400 to 1,000 people. With only about half ADBPB will be diagnosed because the disease usually runs its course without symptoms. Autosomal dominant means there is a 50 per cent risk that the parent transmitted the mutated gene to the child.
Autosomal recessive polycystic kidney disease (ARBPB, also called the children polycystic kidney disease) is more commonly diagnosed in infants, although milder forms may be diagnosed later in childhood or adolescence. The estimated incidence is 1 in 10,000 to 20,000 people. Autosomal recessive means that the mutated gene must be present in both parents; person who has only one mutated gene carrier. If both parents are carriers (each with one normal and one abnormal copy of the gene), there is a 25 percent chance that the child will inherit the mutated gene from each parent and will become ill.
Genetics of polycystic kidney disease - Approximately 85 percent of families with autosomal dominant polycystic kidney disease (ADBPB) has an abnormality on chromosome 16; these people have BPB1 disease. The remaining 15 percent have a defect that affects gene on chromosome 4: it is called BPB2 disease. In some cases it is not possible to determine which gene is mutated.

In about 25 to 40 percent of cases ADBPB occurs in people with no family history of the disease. To the 10 percent of a new gene mutation. Often, especially in families with no BPB1, a disease that progresses slowly and can never lead to the onset of symptoms.

Cysts and renal failure occurring earlier in the case of PKD1 disease, the average age of the last stage occurs when kidney disease (or if they need dialysis or a transplant) is about 57 years for PKD1 disease and 69 with non-PKD1 disease.

Cyst formation - autosomal dominant polycystic kidney disease (ADBPB) causes abnormal cell growth, leading to the formation of cysts in the kidneys, but the way in which cysts form is not clear.

The basic unit of the kidney is the nephron, and each kidney has about a million nephrons. Each nephron consists of a glomerulus, a set of very small arteries intermingled with tubules. Glomeruli and tubules together to filter waste products from the blood stream and put them out in the urine.

With ADBPB, cyst begins to expand tubules. Tubules increased over time, usually due to accumulation of fluid in the cyst. Cells that are clean and multiply it grows. Cysts may grow in the liver, pancreas and / or spleen.

EFFECT OF KIDNEY - autosomal dominant polycystic kidney disease (ADBPB) often leads to progressive kidney failure, partly because of the constant enlargement clean. May occur, and other effects such as high blood pressure, kidney infections, blood in the urine (hematuria) and kidney stones. Pain in the lower back and abdomen is also possible.

Kidney failure - Kidney failure hard enough to require dialysis or a kidney transplant is called the last stage renal disease (ESRD). Although ADBPB may cause ESRD in childhood, usually occurring in middle age or later. Likely need for dialysis in patients with ADBPB is estimated at less than 2 per cent in people under 40 years of age and increases to 50 to 75 percent by the age of 70 to 75 years. Kidney failure does not occur in all patients with ADBPB.

Risk Factors - Risk of chronic kidney disease (a precursor to end-stage renal disease) in ADBPB depends on a number of risk factors. Factors that increase risk include younger age at diagnosis, male sex, presence BPB1, frequent episodes of visible blood in the urine, high blood pressure and enlarged kidneys. Having more than one risk factor further increases the risk of worsening kidney disease whatever men and women.

High blood pressure - High blood pressure often occurs in the case of autosomal dominant polycystic kidney disease (ADBPB) and is diagnosed in 60 to 70 percent of patients. It is often diagnosed early in the disease, before any sign of kidney failure.

Kidney infection - Approximately 30 to 50 percent of patients with ADBPB will have more of a kidney infection.

The primary symptoms of kidney infection in people with ADBPB as fever and back pain. The infection can affect kidney or cyst. In case of infection cysts are not all antibiotics are equally effective. As it is not easy to determine the site of infection, most doctors will recommend an oral antibiotic that can penetrate the cyst. Some patients with very high fever or severe pain should be treated by intravenous antibiotics.

Blood in the urine - hematuria (blood in urine) occurs in 35 to 50 percent of patients with ADBPB and may be the first sign of illness. With hematuria, the urine may be pink or red. Often there are repeated episodes of hematuria.

Hematuria usually causes bleeding into the cyst due to the rupture as a result of a urinary tract infection or with effort; bleeding can cause pain from the lumbar (low back pain). Patients with ADBPB can develop and stones buburezima, which can also lead to hematuria and pain in the hips.

Hematuria associated with ruptured cysts usually stop after two to seven days. Treatment usually involves rest and large amounts of fluid until the bleeding stops. If bleeding does not stop with bed rest and increased intake of fluids, you may need treatment to stop the bleeding.

Buburezima stones - Kidney stones occur in about 20 percent of people with polycystic kidney disease.Kidney stones can cause pain and sometimes can block the path of urine without symptoms.

Treatment of kidney stones blocking the road when the urine is more difficult in patients with ADBPB.Surgical removal of the cyst hinders the use of stone or shock wave to break his (extracorporeal shock wave therapy or lithotripsy ESWL).

Pain in the lower back and abdomen - Patients with autosomal dominant polycystic kidney disease (ADBPB) often feel pain in my stomach and lower back which is not associated with infection, bleeding into cysts or stones. The pain is often dull and plodding, and is thought to be due to stretching of the wall cysts, or pressure on other organs as the kidneys and / or liver enlarged. In contrast, sudden pain is often caused by bleeding or infection in the cyst, torsion of the kidney or kidney stone.

Most people with persistent, dull pain in the abdomen or lower back is not usually needed therapy, often recommended analgesics such as acetaminophen. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or naproxen are also sometimes recommended, although patients with polycystic kidney disease should consult with your doctor about the risks and benefits of NSAIDs and before you start to use them. NSAIDs are not recommended when renal function is reduced.

Some people have pain persistent enough to limit their daily functioning. Severe pain is usually estimated by ultrasound to see if the painful part of a large cyst. If there is, it is possible to introduce a needle into the cyst ultrasound and draw liquid from it. Most patients felt pain relief after draining.However, the pain usually occurs again and sometimes surgery is needed to reduce the pressure of the cysts.

VAN RENAL COMPLICATIONS - In patients with autosomal dominant polycystic kidney disease (ADPKD) is the possible emergence of a large number of complications outside the kidney. Of these complications is thought to arise from the same abnormality responsible for the formation of cysts in the kidneys.

Cerebral aneurysm - The most serious complication of polycystic kidney disease is cerebral or brain aneurysm (a blood vessel due to weakening of its wall). Aneurysms can rupture and cause bleeding in the brain. If not treated quickly, the bleeding can cause irreversible brain damage or death. Shooting anerurizme often occurs in patients with larger aneurysms and / or poorly controlled high blood pressure. The most common symptom is bleeding, rash, severe headache, often accompanied by nausea and vomiting.

About 4 percent of young adults with ADBPB may have brain aneurysms, and the frequency increases with age to about 10 percent. People with a family history of cerebral aneurysm or cerebral hemorrhage have the highest risk of aneurysm formation.

For high risk patients recommended early diagnosis of cerebral aneurysms. Test (search for aneurysm) is usually performed using different scanners such as CT scan or magnetic resonance angiography (MRA).

Currently, routine testing is recommended only in case of high-risk patients, such as patients who have had ruptured aneurysms, patients with a family history of brain hemorrhage, patients with warning symptoms, or patients with high-risk activity (eg pilot), when loss of consciousness may that seriously endangers the patient or another person.

Testing of patients at low risk are not recommended because they are rare aneurysm in the group, and most of detected aneurysms has a low risk of rupture. In addition, there is a risk of serious neurologic complications related to corrective surgeries, this means that the risk of removing the aneurysm outweigh the benefits of avoiding the rupture. Therefore, most patients with low risk would benefit from the invention of the aneurysm, especially because the operation of small aneurysms is not recommended.

Aneurysms that are greater than 7 to 10 mm have a high risk of rupture (up to 2 per cent gorišnje).Cerebral aneurysms and size as those that cause the symptoms can be corrected with surgery or a procedure that sets the coil inside the aneurysm to reduce the risk of cracking. Smaller aneurysms that do not cause symptoms rarely break and are adjusted routinely, except in patients with a history of bleeding.

Cysts in the liver - liver cysts are common in patients with autosomal dominant polycystic kidney disease (ADBPB), the affected 30 to 40 percent of patients younger than 30 years to more than 80 to 90 percent of people older than 60 years.

Cysts in the liver are more common in people with advanced chronic kidney disease. Although the incidence of polycystic liver disease is similar in men and women, very large cysts occur exclusively in women and more common in women who have had multiple pregnancies.

Most patients with cysts in the liver have no symptoms and have normal or nearly normal liver function. However, some individuals may occur pain (if persistent or very strong it may be necessary to drain the cyst) and / or infection of the cyst (which requires antibiotic therapy and, in some cases, drainage).

Valvular heart disease - Abnormalities of the heart valves occur in 25 to 30 percent of patients with ADBPB. The majority of patients with valvular heart disease have no symptoms and require no treatment. However, valvular heart disease over time can worsen and become severe enough to be required to replace them.

Diverticula column - a pocket diverticulum (expand outwards) that can occur in the colon wall, especially at the point where it enters the blood vessel. Divertikulozis indicates the presence of diverticula in the colon; Diverticulitis refers to inflammation of the diverticula. People with autosomal dominant polycystic kidney disease (ADBPB) have an increased likelihood of complications of diverticula in the colon, especially after renal transplantation.

Symptoms of diverticulitis include abdominal pain (which may be similar to the pain caused by cysts in the kidneys), diarrhea, and blood in the stool. People with the disease have no symptoms of diverticula that do not need specific treatment. Treatment of diverticulitis depends on the severity of symptoms and clinical findings.

Abdominal wall hernia - hernia occurs where muscles are weakened. Part can be enhanced if pressed bodies behind the muscle, especially if a person increase pressure on the abdomen (such as during coughing or while carrying a heavy load). Abdominal wall hernias are relatively common, affecting about 45 percent of patients with autosomal dominant polycystic kidney disease (ADBPB).

Surgery is the best treatment of abdominal wall hernias, but surgical treatment is required for all chemistry. Small hernia and can only be monitored.

Diagnosis of polycystic kidney disease - autosomal dominant polycystic kidney disease (ADBPB) is usually easy to diagnose in patients with pain in the hips or abdomen and who have a family history ADBPB. It is usually recommended examinations such as ultrasound, magnetic resonance imaging scan (MRI) or CT scan, and such statements can be seen enlarged kidneys with multiple cysts in both kidneys. Cysts can be found in the liver, pancreas and spleen.

For people without a family history ADBPB is a little harder to diagnose. At polycystic kidney disease can be suspected after a scan, for example, ultrasound, done for some other reason. Family history may be negative because the family members developed symptoms later died from some other cause before ADBPB diagnosed, or did not have any symptoms.

TREATMENT polycystic kidney disease - autosomal dominant polycystic kidney disease (ADBPB) often leads to kidney failure due to continued enlargement of the cysts. Therefore, treatment focuses on slowing the progression of kidney failure and treatment of kidney infections or kidney stones and pain in the lower back or abdomen.

High blood pressure - treatment of high blood pressure can have a double meaning in people with polycystic kidney disease because it can slow the loss of kidney function and the risk of rupture of cerebral aneurysms is minimized. People with high blood pressure have a higher risk of kidney failure.

Angiotensin converting enzyme (ACE) and angiotensin receptor blockers (ARB) can effectively lower blood pressure in most patients with ADBPB.

Restriction of dietary protein - There are conflicting findings regarding the benefits of a low-protein diet in patients with ADBPB. Due to the limited evidence for the benefits we do not recommend lowering protein intake of 1 to 1.1 g / kg per day. In this example, a man of 82 kg would need about 90 grams of protein per day.

End-stage renal disease - Patients with ADBPB who progress to end-stage renal disease are or dialysis or kidney transplantation.

People with ADBPB requiring dialysis is usually treated with hemodialysis. People with ADBPB undergoing dialysis live longer than people with the last-stage renal disease other cause.

Peritoneal dialysis, a form of dialysis that involves infusing fluid in the abdomen and draining the fluid over time, rarely performed because of the presence of enlarged kidneys.

Prognosis after renal transplantation is usually excellent.

Testing for polycystic kidney disease - relatives of patients with autosomal dominant polycystic kidney disease (ADBPB) enabled testing. The decision about testing the BPB should be made after consultation with an experienced doctor, and that will include all the pros and cons of such testing.

Testing in children - child patient with ADBPB can be tested for the disease before symptoms develop.The chance of a child being hit by ADBPB included when a parent is ill one in two (50 percent). When both parents are born out of a chance than three in four cases (75 per cent) that the child will be affected.

However, testing is not usually recommended as a child, unless the child shows no symptoms of the disease, because ultrasound testing in children is not reliable. Most people with BPB does not develop cysts to a later time. In addition, the diagnosis of disease in children does not affect the subsequent treatment, and can lead to the child's anxiety and fear.

A patient who has ADBPB should follow the child's blood pressure once a year, starting from the third year. Although it is recommended for all children, it is not always.

Examination of polycystic kidneys in adults - adult with a family history of polycystic kidney disease, but who have no symptoms, may be subject to testing. However, it is important to understand that people who have no symptoms do not need treatment. In addition, the diagnosis of BPB can potentially affect the possibility that the person gets life insurance.

Ultrasound - tests such as ultrasound can be used to diagnose ADBPB's, using the criteria described below. These criteria are very sensitive with respect to the detection BPB1: and less sensitive in patients with non-BPB1 disease in which cysts occur later in life. To be diagnosed ADBPB:

For people younger than 30 years at least two cysts (in one or both kidneys) must be detected by ultrasound.
In patients aged 30 to 59 have at least two cysts that are detected in each kidney ultrasound.
In patients older than 60 years, four or more cysts must be found in each kidney ultrasound.
Negative ultrasound or CT scan does not mean that a person does BPB1, unless the age of 30. It is not clear when after ultrasound BPB2 can be turned off.

For example, a person older than 30 years and has a negative ultrasound can develop non-BPB1 disease. However, people with non-BPB1 have a lower risk of kidney failure than people with BPB1.That some people can provide comfort.

Genetic Testing - Genetic testing can be used to test for BPB1 or BPB2 mutations, although their use is limited due to cost and lack of diagnosis in 30 percent of cases. Genetic tests can be used:

In the case of young adults with a family history ADBPB and negative ultrasound, which is a potential kidney donor
In the case of a person with that diagnosis ADBPB after other tests is not clear.
It seems that the formation of cysts in ADBPB begins in the fetus. However, the disease usually does not cause symptoms in young children. Genetic testing can be done during pregnancy to see if the child is affected, although it is not recommended for several important reasons:
The test is not perfect and may show that the child was positive for ADPBP when it is not.
The test may be negative, and ADBPB still be present.
Some people with mutations in genes never develop symptoms ADBPB a
ADBPB the majority of patients does not cause symptoms until middle age (and by then it may be found effective therapy that will prevent the growth of cysts).

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