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 affects 1 in every 400 to 1000 people. With only about half ADBPB will be diagnosed because the disease usually resolves without symptoms. Autosomal dominant means that there is a risk of 50 percent that a parent will pass the mutated gene to the child.
Autosomal recessive polycystic kidney disease (ARBPB, also known as polycystic kidney disease of children) are more commonly diagnosed in infants, although milder forms can be diagnosed later in childhood or adolescence. The estimated incidence is 1 in 10,000 to 20,000 people. Autosomal recessive, meaning that the mutated gene must be present in both parents, a person who has only one mutated gene is a carrier. If both parents are carriers (each with one normal and one abnormal copy of the gene), a 25 percent chance that a child will inherit the mutated gene from each parent and will become ill.
GENETICS polycystic kidney - About 85 percent of families with autosomal dominant polycystic kidney disease (ADBPB) have an abnormality on chromosome 16, these people have BPB1 disease.The remaining 15 percent has a defect that affects a gene on chromosome 4, to be 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 individuals without a family history of disease. In 10 percent of a new gene mutation. Often, especially in families without BPB1, a disease that progresses slowly and never cause symptoms.
Cysts and renal failure occur earlier in the case of PKD1 disease, occurs when the average age of the last stage kidney disease (or when required dialysis or transplantation) was about 57 years in PKD1 disease and 69 with non-PKD1 disease.
FORMATION OF CLEAN - 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 substances from the bloodstream and expel them through urine.
With ADBPB, cysts begin to expand tubules. Tubules increased over time, usually due to accumulation of fluid in the cyst. The cells that make up a clean copy and it is growing. Cysts may grow in the liver, pancreas and / or spleen.
IMPACT ON KIDNEY - autosomal dominant polycystic kidney disease (ADBPB) often leads to progressive kidney failure, partly due to the constant enlargement of cysts. May occur and other consequences such as high blood pressure, kidney infections, blood in the urine (hematuria) and kidney stones. Pain in 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 can lead to ESRD in childhood, usually occurs in middle age or later. The probability of the need for dialysis in patients with ADBPB is estimated at less than 2 percent in patients younger than 40 years and increasing to 50 to 75 percent by age 70 to 75 years.Kidney failure does not occur in all patients with ADBPB.
Risk Factors - Risk of chronic kidney disease (a precursor to the last stages of kidney disease) in ADBPB depends on a number of risk factors. Factors that increase risk are 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 increases the risk of worsening kidney disease as long as men and women.
High blood pressure - High blood pressure often occurs in the case of autosomal dominant polycystic kidney disease (ADBPB) and diagnosed at 60 to 70 percent of patients. It is often diagnosed early in the disease, before any sign of kidney failure.
Kidney Infection - Some 30 to 50 percent of patients with ADBPB will have more of a kidney infection.
The primary symptoms of kidney infection in patients with ADBPB as fever and pain. Infection may be surgery or kidney cyst. In case of infection of cysts are not all antibiotics are equally effective. Since 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 with antibiotics intravenously applied.
Blood in Urine - Hematuria (blood in urine) occurs in 35 to 50 percent of patients with ADBPB and may not be the first sign of illness. With hematuria, the urine may be pink or red. There are frequent repeated episodes of hematuria.
Hematuria usually causes bleeding into the cyst because of its rupture, resulting from a urinary tract infection or a larger effort, the bleeding can cause pain from the lumbar (low back pain). Patients with ADBPB can develop and buburezima stones, which can also cause hematuria and pain in her hips.
Hematuria associated with ruptured cysts usually ceases after two to seven days. Treatment usually involves rest and large amounts of fluids until the bleeding stops. If bleeding does not stop with bed rest and intake of large amounts of fluids, you may need treatment to stop bleeding.
Stones in buburezima - stones in the kidney occurs 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.
The treatment of kidney stones blocking the path where the urine is more difficult in patients with ADBPB. Cyst makes surgical removal of the stone or the use of shock wave to break his (extracorporeal shock wave lithotripsy treatment or ESWL).
Pain in lower back and abdomen - Patients with autosomal dominant polycystic kidney disease (ADBPB) often feel pain in the abdomen and lower back which is not associated with infection, bleeding in the cyst or stone. The pain is often dull and persistent and is considered to be caused by a cyst wall stretch or pressure on other organs when the kidneys and / or increase the liver. In contrast, sudden pain is often a result of bleeding or infection in the cyst, or twisting of kidney stones in the kidney.
Most people with persistent, dull pain in the abdomen or lower back is not usually require treatment, often recommended analgesics such as acetaminophen. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or naproxen are also sometimes recommended, although patients with polycystic kidneys should consult with your doctor the benefits and risks of NSAID's before they start to use them. NSAIDs are not recommended when renal function is reduced.
Some people have persistent pain sufficient to limit their daily functioning. Severe pain is usually assessed by ultrasound to see if the painful part of a large cyst. If so, it is possible to introduce a needle into the cyst using ultrasound and draw liquid from it. Most patients feel pain reduction after drainage.However, pain usually occurs over and sometimes surgery is needed to lessen the pressure of the cyst.
VAN KIDNEY COMPLICATIONS - In patients with autosomal dominant polycystic kidney disease (ADPKD) is the possible emergence of a large number of complications out of the kidney. For these complications are thought to occur due to the same abnormality responsible for the formation of cysts in the kidneys.
Cerebral aneurysm - most serious complications of polycystic kidney disease, cerebral or brain aneurysm (widening of blood vessels due to the 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 sudden bleeding, severe headache, often accompanied by nausea and vomiting.
About 4 percent of young adults with ADBPB may have an aneurysm in the brain, 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. Testing (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 cerebral hemorrhage, patients with warning symptoms or patients with high-risk occupation (eg, pilot), when loss of consciousness may cause a serious threat to the patient or another person.
Examination of patients with low risk is not recommended because they are rare in the aneurysm group, and most of the detected aneurysms has a low risk of rupture. In addition, there is a risk of serious neurological complications associated with corrective surgery, it means that the risk of aneurysm elimination outweigh the benefits of avoiding its rupture. Because 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 percent gorišnje).Cerebral aneurysms and the size of those that cause symptoms can be corrected by 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 shoot and 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 persons with advanced chronic kidney disease. Although the incidence of polycystic liver disease is similar in men and women, very large cysts were found exclusively in women and more common in women who have had multiple pregnancies.
Most patients with cysts in the liver has no symptoms and have normal or nearly normal liver function.However, some people may be told the pain (if persistent or very strong it may be necessary drainage of cysts) and / or infection of the cysts (which requires antibiotic therapy and, in some cases, drainage).
Valvular heart disease - heart valve abnormalities occur in 25 to 30 percent of patients with ADBPB.Most patients with valvular heart disease have no symptoms and require no treatment. However, valvular heart disease over time can deteriorate and become heavy enough to be a need replacing.
Diverticulum column - diverticulum is a pocket (outward expansion) 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 pain caused by cysts in the kidneys), diarrhea and blood in the stool. People with diverticula disease without symptoms do not need specific treatment. Treatment of diverticulitis depends on the severity of symptoms and clinical findings.
Abdominal wall hernia - A hernia occurs where the muscles are weakened. Part can be enhanced if it is pressed bodies behind the muscle, especially if people increase the pressure on the abdomen (such as during coughing or while carrying heavy loads). Abdominal wall hernias are relatively common and affect 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 hernias. Small hernias can only be monitored.
The diagnosis of polycystic kidneys - an autosomal dominant polycystic kidney disease (ADBPB) is usually easy to diagnose in patients with pain in the hips or stomach and have a family history ADBPB.It is usually recommended for examinations such as ultrasound, magnetic resonance imaging scan (MRI) or CT scan, and such examinations can be seen enlarged kidneys with multiple cysts in both kidneys. Cysts can be found in the liver, pancreas and spleen.
In patients without a family history, ADBPB a little more difficult to diagnose. In polycystic kidneys can be suspected after a scan, such as ultrasonography, done for another reason. Family history may be negative because the family members developed symptoms and died later from some other cause before ADBPB diagnosed or they had no symptoms.
TREATMENT OF KIDNEY DISEASE Polycystic - autosomal dominant polycystic kidney disease (ADBPB) often leads to kidney failure due to the continuous enlargement of cysts. Therefore, treatment focuses on slowing the progression of kidney failure and treatment of kidney infection or kidney stones and pain in lower back or abdomen.
High blood pressure - Treatment of high blood pressure can have a double significance in patients with polycystic kidney because it can slow the loss of kidney function and risk of rupture of cerebral aneurysms is reduced to a minimum. 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 use of protein-poor diet in patients with ADBPB. Due to the limited evidence for the benefits we do not recommend lowering protein intake to 1 to 1.1 g / kg per day. In this example, a man of 82 kg would need about 90 grams of protein a day.
The last stage of kidney disease - Patients with ADBPB to progress to the last stages of kidney disease required either dialysis or kidney transplantation.
People with ADBPB who need dialysis are usually treated with hemodialysis. People with ADBPB who were undergoing dialysis live longer than people with the last stage of kidney disease other causes.
Peritoneal dialysis, which involves a form of dialysis fluid in the abdomen infuziranje and draining the fluid after a while, rarely performed because of the presence of enlarged kidneys.
Forecast after kidney transplantation is usually excellent.
TESTING IN KIDNEY DISEASE Polycystic - relatives of the patient with autosomal dominant polycystic kidney disease (ADBPB) enabled testing. The decision of the BPB test should be made after consultation with an experienced physician, which will cover all the pros and cons of such testing.
Testing in children - A child patient with ADBPB can be tested for disease before symptoms appear.The chance that a child is hit with ADBPB-when a parent is ill is one in two (50 percent). When both parents have labored there is a chance of three in four cases (75 percent) and child will be affected.
However, testing is usually not recommended in children unless the child shows symptoms of the disease, because ultrasound testing in children is not reliable. Most people with BPB do not develop cysts later times. In addition, the diagnosis of disease in children does not affect the subsequent treatment, and can lead to anxiety and fear of the child.
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, not always.
Examination of the polycystic kidneys in adults - An adult with a family history of polycystic kidney disease, but that does not have symptoms, can undergo testing. However, it is important to understand that people without symptoms, treatment is not necessary. In addition, the diagnosis of BPB and can potentially affect the possibility that that person receives life insurance.
Ultrasound - Tests such as ultrasound can be used in the diagnosis ADBPB-a, 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:
In patients younger than 30 years at least two cysts (one or both kidneys) must be detected by ultrasound.
In patients aged 30 to 59 years 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.
A negative ultrasound or CT scan does not mean that person does BPB1, unless it is older than 30 years. It is not clear when, after ultrasound BPB2 can be turned off.
For example, people older than 30 years and who has a negative ultrasound may develop non-BPB1 disease. However, people with non-BPB1 have a lower risk of kidney failure than people with BPB1. To some people can offer consolation.
Genetic Testing - Genetic tests can be used for testing or BPB1 BPB2 mutations, although their use is restricted 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 donor kidneys
In the case of a person in whom the 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 causes no symptoms in young children. Genetic testing can be done during pregnancy to see if the child is affected, although not recommended for several important reasons:
The test is not perfect and can demonstrate that the child was positive for ADPBP when it is not.
The test may be negative, and ADBPB still be present.
Some individuals with mutations in genes never have symptoms ADBPB a
ADBPB in most patients does not cause symptoms until middle age (and then she could have found an effective therapy that will prevent the growth of cysts).
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