Polycystic Kidney Disease or PKD is an inherited disorder in which clusters are found to primarily develop within the patient’s kidneys. Cysts are basically benign or noncancerous round sacs which contain water-like fluid. These cysts often vary in size as they accumulate more fluid & can also grow to very large sizes. Usually, kidneys are the most severely affected organ, but polycystic kidney disease can also cause cysts to develop elsewhere in the body including liver. Apart from these, this disease can cause a variety of other severe complications. Most common complication of polycystic kidney is high blood pressure. Kidney failure is yet another common problem for patients with polycystic kidney disease. However, polycystic kidney disease greatly varies in severity, but some complications can also be prevented. Medical treatments & lifestyle changes can effectively help reduce damage to kidneys from complications like high blood pressure.
Signs & Symptoms of Polycystic Kidney Disease
Common signs & symptoms of polycystic kidney disease include the following:
- High Blood Pressure
- Back or Side Pain
- Increase in Size of Abdomen
- Kidney Failure
- Kidney Stones
- Frequent Urination
- Blood in Urine
- Infections of Urinary Tract or Kidneys
Time to Seek Medical Help
It is quite common for people to be having polycystic kidney disease for years without knowing they have the disease in absence of developing any signs or symptoms. However, people who are having some signs & symptoms of polycystic kidney disease must see the doctor in order to determine as to what exactly is causing them. People who are having any first-degree relative like a parent, sibling or child suffering with polycystic kidney disease must also see their doctors in order to discuss pros & cons of screening for polycystic kidney disorder.
Causes of Developing Polycystic Kidney Disease
Abnormal genes are found to cause polycystic kidney disease & these genetic defects normally mean that the disease runs in the family. In rare cases, genetic mutation is also found to be the cause of polycystic kidney disease. Generally, there are two types of the following polycystic kidney diseases which are caused by differing genetic flaws.
- Autosomal Dominant Polycystic Kidney Disease or ADPKD – Signs & symptoms of ADPKD are most often found to develop between the ages of 30 – 40 years. This type of disease was known as adult polycystic kidney disease in the past, but children were also found to develop this disorder. Only a single parent needs to have this disease in order to pass it along to children. When one parent is having ADPKD, every child will have about 50 percent chance of developing this disease. Moreover, this form generally accounts for about 90 percent of polycystic kidney disease cases.
- Autosomal Recessive Polycystic Kidney Disease or ARPKD – This is a far less common type of disease than ADPKD. Signs & symptoms of this disease are most often found to appear shortly after birth. However, in some cases it is also found that signs & symptoms of ARPKD do not appear until late in childhood or during adolescence. Nevertheless, both parents must essentially have abnormal ARPKD genes so as to pass on this form of the disease. When both parents are carrying a gene for this disease, each child is found to have a 25 percent chance of developing this disorder.
As of now, researchers have identified two genes which are associated with ADPKD & only one which is associated with ARPKD. In some cases it has also been found that the ADPKD patient is having no known family history of this disease. But then, it is also possible that someone in the patient’s family did in fact have the disease but did not happen to show any signs or symptoms before dying of some other cause. Moreover, in a small percentage of ADPKD cases where no family history is present, it is found that the disease has resulted from spontaneous gene mutations.
Complications Associated with Polycystic Kidney Disease
Complications which are generally associated with polycystic kidney disease include the following.
- High Blood Pressure – Rise in blood pressure is a common complication associated with polycystic kidney disease. Moreover, when high blood pressure is left untreated it can further cause damage to the patient’s kidneys & increase risk of developing heart disease & stroke.
- Loss of Kidney Function – Progressive loss of kidney function is a serious complication associated with polycystic kidney disease. Nearly half of the people having this disease end up with kidney failure by the age of 60 years. Polycystic kidney disease will invariably interfere with the ability of the patient’s kidney to clear wastes & eventually build them up to toxic levels into a condition called uremia. As uremia worsens, end-stage renal (kidney) failure will result & necessitate ongoing procedure of kidney dialysis or kidney transplant in order to prolong life.
- Pregnancy Complications – Pregnancy is quite successful for most women having polycystic kidney disease. However, in some cases women may develop pre-eclampsia, which is a life-threatening disorder. Women who are at high risk of this complication include those who were having high blood pressure before they became pregnant.
- Growth of Cysts in Liver – Likelihood of developing cysts in liver for people with polycystic kidney disease increase with growing age. Although, both men & women are found to develop cysts, it is women who generally develop larger cysts. Growth of cysts may be possibly aided by hormones produced in females.
- Development of Aneurysm in Brain – Aneurysm is a balloon-like bulge in blood vessels within the brain & can cause hemorrhage (bleeding) in case it ruptures. Moreover, people with polycystic kidney disease have higher risk of developing aneurysms, especially when they are younger than 50 years of age. The risk is also found to be higher when the patient is having family history of aneurysms or when the patient is having uncontrolled high blood pressure.
- Heart Valve Abnormalities – Almost one in four adults with polycystic kidney disease are found to develop mitral valve prolapsed. This condition happens whenever the mitral valve does not close properly & thereby allows blood to leak backwards.
- Colon Problems – Pouches or sacs & weakness in the walls of colon is called diverticulosis. This may often develop in people with polycystic kidney disease.
- Chronic Pain – Pain is one of the most common symptoms of people suffering from polycystic kidney disease. This is most commonly occurring on the side or back. Pain is also often associated with a kidney stone, urinary tract infection or malignancy.
Preparing for Polycystic Kidney Disease Initial Appointment
People having signs & symptoms of polycystic kidney disease are most likely to start by seeing the family doctor or a general physician. However, these patients may be referred to a nephrologist, who is a specialist doctor in kidney health. Since appointments with specialists can be brief during which a lot of ground is to be covered, it would be a sensible idea to be well prepared during the initial appointment. Listed here is some basic information which can help patients be ready & as to understand what to expect from the specialist doctor.
What Polycystic Kidney Disease Patients Can Do
Patients visiting the specialist doctor for polycystic kidney disease can use these tips to help prepare themselves for initial appointment & help doctors better assess their condition.
- Write Down Symptoms Experienced – Patients should write down symptoms including any which may seem unrelated to polycystic kidney disease for which this appointment is scheduled.
- List of Current Medications – Apart from the medications the patient is presently taking, this list should also include vitamins & supplements including dosages.
- Take Along a Family Member or Friend – It is sometimes difficult to remember all information which is provided to patient during the initial appointment. Therefore, someone who is accompanying the patient may help remember some things which the patient could have missed or forgotten.
- Write Down Questions to Ask Doctors – Some basic questions which can be asked to specialist doctors regarding polycystic kidney disease include the following:
- What is the most likely cause of my signs & symptoms?
- Could there be any other possible causes of my symptoms?
- What type of tests will I need for diagnosis?
- Will these tests need any special preparation?
- Is my condition temporary or long-lasting?
- What types of treatments are available for my condition?
- Which treatment will best suit my condition?
- What types of side-effects are expected from my treatment?
- How can I best manage other health conditions along with my treatment?
- Will I need to follow any dietary restrictions?
- What type of activity restrictions will I need to follow?
- Is there any generic alternative to medications prescribed for me?
- Which is the most appropriate level for my blood pressure?
- What is possible for me to do so as to bring down my blood pressure?
- What other complications do I have beside kidney cysts?
- Can you provide me any brochures or printed material which I can take back with me?
- Which websites do you recommend I visit for more information on the subject?
In addition to this list of questions, patients must not hesitate to ask any number of other questions as they occur during the initial appointment for polycystic kidney disease.
What Doctors Expect to Know From Polycystic Kidney Disease Patients
Doctors are likely to ask patients a number of questions including the following.
- When was it that you first experienced these symptoms?
- Have these symptoms been occasional or continuous?
- Is there anything which seems to improve or worsen your symptoms/
- Is there anyone else in your family having history of polycystic kidney disease or any other type of kidney disease?
- Are you aware of your average blood pressure values?
- Have you measured your kidney function?
Tests & Diagnosis for Polycystic Kidney Disease
Certain tests can effectively detect size & number of cysts in kidneys for polycystic kidney disease patients & which will eventually help doctors evaluate the amount of healthy kidney tissue which is available. Some of these common tests are listed below.
- Ultrasound Examination – A wand-like device which is known as a transducer is placed on the patient’s body during an ultrasound examination. This device emits inaudible sound waves which are reflected back to the transducer, like sonar waves. Finally, a computer translates these reflected sound waves into images showing the status of kidneys.
- CT Scan – Computerized Tomography – Patients are made to lie on a movable table for this procedure as they are guided into a doughnut-shaped device which projects extremely thin X-ray beams through the patient’s body. With help of this examination, doctors are able to see cross-sectional images of the patient’s kidneys.
- MRI Scan – Magnetic Resonance Imaging – A combination of radio waves & magnetic fields generate cross-sectional images of the patient’s kidneys as they lie inside a large cylinder.
Treatment & Drugs for Polycystic Kidney Disease
Treatment of polycystic kidney disease involves dealing with a number of signs, symptoms & complications in early stages including the following.
- High Blood Pressure – Controlling high blood pressure can effectively delay progression of polycystic kidney disease & further slow damage to kidneys. Combining a low-fat & low-sodium diet with moderate in calorie & protein content, without any habit of smoking, reducing stress & increasing exercise can help control the problem of high blood pressure. However, medications are invariably required to control high blood pressure. Most common medication is called angiotensin-converting enzyme of ACE inhibitors & which can effectively be used to control high blood pressure among people with polycystic kidney disease, although, more than a single drug is often required for proper control of blood pressure.
- Chronic Pain – usually located within the back or side of polycystic kidney disease patients, chronic pain is a very common symptom in this condition. However, most often this pain is mild & can be conveniently controlled with over-the-counter medications generally containing acetaminophen. But then, for some people this pain is constant & more severe. Doctors may therefore recommend surgery in rare cases for removal of cysts when they are large enough so as to cause pressure & pain.
- Complication of Cysts – It is quite rare when kidney cysts cause severe pain, obstruct blood vessels or organs & are infected or impact the patient’s ability to receive kidney transplantation. However, in such a scenario, patients may require a surgical procedure so as to drain cysts.
- Kidney or Bladder Infections – Prompt & proper treatment of infections with antibiotics is required in order to prevent damage to kidneys in patients affected by polycystic kidney disease.
- Blood in Urine – Polycystic kidney disease patients need to drink plenty of fluids as soon as they notice blood in urine. This is required to dilute the urine. Dilution may also eventually help prevent obstructive clots which can form inside the urinary tract. Bed rest is also needed by these patients & which may also help decrease bleeding.
- Kidney Failure – When polycystic kidney disease patients lose their ability to remove extra fluids & wastes from blood, they would eventually required to undergo either dialysis or kidney transplantation procedure.
- Cysts in Liver – Following a conservative approach, doctors may often recommend that patients avoid hormone therapy for treatment of cysts in liver. However, in rare cases treatment of cysts in liver includes draining of symptomatic cysts when they are not too many, or surgery to remove part of the liver, or even liver transplant if required.
- Aneurysms – Doctors usually recommend regular screening for intracranial aneurysms to patients having polycystic kidney disease along with family history of ruptured intracranial brain aneurysms. Surgical clipping of aneurysm reducing risk of bleeding is an option whenever an aneurysm is discovered, but this will eventually depend upon its size. Nonsurgical treatment of small aneurysms usually involves controlling high blood cholesterol & high blood pressure along with quitting smoking.
Coping & Support Following Polycystic Kidney Disease
Like with several other cases of chronic illness, having polycystic kidney disease will also make patients feel overwhelmed. Therefore, it would be sensible that patients do not deal with their illness alone. Support of family & friends is quite important in dealing with chronic illnesses. Additionally, a psychiatrist, psychologist, a counselor or a clergy member can be ideal help. Polycystic kidney disease patients may also like to consider joining some support group. Even though support groups are not for everyone, they can help patients gather helpful information regarding treatments & coping. Being with people who can understand what the patient is going through will definitely make the patient feel less alone at least.
Preventive Measures for Polycystic Kidney Disease
When people having polycystic kidney disease are considering having children, they should consult genetic counselors as they can eventually help them assess, risk of passing the disease to offspring. Keeping kidneys as healthy as possible will also help prevent some complications which are associated with this disease. One of the most important ways for polycystic kidney disease patients to protect their kidneys is by proper management of their blood pressure. It would therefore be sensible for them to consider the following tips which can help them keep their blood pressure under check.
- Take the prescribed blood pressure medications as directed by the doctor.
- Eat low-salt diet containing plenty of vegetables, fruits & whole grains.
- Check with the doctor as to what is the right weight & maintain healthy weight.
- Polycystic kidney disease patients who are smokers should quit smoking in case they do.
- PKD patients should exercise regularly. They should at least aim for 30 minutes of moderate physical activity for most days of the week.
Affordable Treatment for Polycystic Kidney Disease in India
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