Polycystic Kidney Disease
May 24, 2010 | Reviewed on October 30, 2013 by Daniel Shoskes, MD
Cleveland_Clinic_Host: According to the PKD Foundation, polycystic kidney disease (PKD) affects an estimated one in 500 people regardless of sex, age, race or ethnic origin. It comes in two forms: autosomal dominant (ADPKD) and autosomal recessive (ARPKD), and is an inherited disorder. Without preventive options or a cure available, it is important for PKD patients to learn how to live with the disease.
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The kidneys are two organs, each about the size of a fist, located in the upper part of a person’s abdomen, toward the back. The kidneys filter wastes and extra fluid from the blood to form urine. They also regulate amounts of certain vital substances in the body.
When cysts form in the kidneys, they are filled with fluid. PKD cysts can profoundly enlarge the kidneys while replacing much of the normal structure, resulting in reduced kidney function and leading to kidney failure. When PKD causes kidneys to fail—which usually happens after many years to decades—the patient requires dialysis or kidney transplantation. About one-half of people with the most common type of PKD progress to kidney failure, also called end-stage renal disease (ESRD).
The Cleveland Clinic Center for Renal Disease is staffed with experienced nephrologists and medical staff who develop and implement customized treatment plans for PKD patients. The Center is also a leading participant in national PKD research.
Dr. Surafel Gebreselassie joined the Cleveland Clinic staff in 2008 is a staff member of the Department of Nephrology and Hypertension, which part of the Glickman Urological & Kidney Institute. His specialty interests include chronic kidney disease, electrolyte disorders such as hyperkalemia, hypokalemia, hypomagnesemia , glomerulonephritis, critical care nephrology and kidney transplantation.
To make an appointment with Dr. Gebreselassie, or any of the other specialists in the Glickman Urological & Kidney Institute’s Department of Nephrology and Hypertension, please call 800.223.2273, ext. 46771. You can also visit us online at clevelandclinic.org/nephrology.
Cleveland_Clinic_Host: Welcome to our Online Health Chat with Dr. Surafel Gebreselassie. We are thrilled to have them here today for this chat. Let’s begin with the questions.
Overview & Diagnosis of PKD (Polycystic Kidney Disease)
Tophat345: How is PKD diagnosed in a newborn?
Speaker_-__Dr__Surafel_Gebreselassie: A diagnosis of autosomal recessive PKD (or infantile PKD) is usually made based on clinic presentations, such as enlarged kidneys leading to abdominal distention, signs such as inability to concentrate urine (patient may urinate more often) and high blood pressure. Blood testing can show reduced kidney function. If these signs are present, an ultrasound would be used to look for enlarged cysts in the kidneys.
Patients with ARPKD can present with symptoms of biliary dysgenesis and congenital hepatic fibrosis.
Tophat345: How is PKD diagnosed in a newborn, the Recessive kind? Are both parents tested and how is it done?
Speaker_-__Dr__Surafel_Gebreselassie: Autosomal recessive PKD (ARPKD) can be diagnosed using antenatal ultrasonography after 24 weeks of gestation. Markedly enlarged kidneys are looked for. In a severe form of this disease, infants often have underdeveloped lungs. In less severe forms, PKD may not be detected by ultrasound and cysts may grow after the child is born, causing abdominal swelling.
Parents of a child with infantile PKD should be informed that if they have another child, that child will have a 1 in 4 chance of developing PKD, and a 1 in 2 chance of his/her being a carrier.
If a child is born with PKD, parents have a choice of whether they want to be tested or not. I recommend discussing this further with a pediatric nephrologist.
player: I have numerous cysts in my left kidney, but none in my right. Is there any chance at all that the right kidney will stay cyst free?
Speaker_-__Dr__Surafel_Gebreselassie: Without detailed evaluation it would be difficult to answer your question. The diagnosis of PKD depends on the age of the patient and the presence or absence of a family history of PKD. One commonly used diagnostic criterion would involve finding cysts on ultrasound examination of the kidneys along with family history of PKD. For example if you are under age 30, you would need at least 2 cysts in one or both kidneys in the presence of a positive family history to make the diagnosis. People can develop cysts, often called simple cysts, as they get older as a result for those older than 60 years, one would need the presence of 8 cysts in both kidneys to make the diagnosis of PKD. There are also other imaging modalities that can be used such as CT or MRI. The presence of cysts in other organs such as the liver, genetic testing can be of added diagnostic tool to help make the diagnosis. I would like to make the point that finding a simple cyst in a kidney is common and doesn’t imply PKD.
kmiller: If I have adult onset PKD, Do I have my children tested ? When?
Speaker_-__Dr__Surafel_Gebreselassie: Screening is not usually recommended during childhood unless the child has signs or symptoms of PKD. This is because ultrasound screening in not reliable in children. Most people with PKD do not develop cysts until later in life. Learning of the diagnosis during childhood could potentially cause a child to worry. However, a parent who has PKD should ensure that the child's blood pressure is checked once a year, after age 3.
help: Can PKD affect male fertility? My wife and I are trying unsuccessfully to get pregnant. Could this be a problem?
Speaker_-__Dr__Surafel_Gebreselassie: There are reports of male infertility with PKD and it is usually related to cystic dilatation of the seminal vesicles in men, although this is rare. I would recommend that you see your Nephrologist to see if this is a possibility with you. I would also recommend seeing an infertility specialist, for both you and your wife.
halibut: What blood pressure is considered normal for someone with PKD. Can a person have an elevated blood pressure under treatment and be considered OK?
Speaker_-__Dr__Surafel_Gebreselassie: Target blood pressure should be in the range of 110 - 130mmHg systolic and 70-80mmHg diastolic. Individual patients need to work with their physicians to achieve this goal pressure.
hotdog: If someone with PKD has a kidney transplant, are they then free of the disease? Can cysts develop in the transplanted kidney?
Speaker_-__Dr__Surafel_Gebreselassie: If the kidney is from a living donor, there is no chance as the donor would have been prescreened prior to being accepted as a transplant donor. If this is a young deceased donor, there is a small chance of receiving a kidney from a diseased donor with undiagnosed PKD, as the cysts may be too small to be detected. Even then, because cysts grow very slowly, its impact on the renal graft is probably minimal.
PKD Treatment Options
gonecrazy: Once I start dialysis, will I need to be on it until I eventually have a transplant?
Speaker_-__Dr__Surafel_Gebreselassie: In patients who have had progressive kidney disease and on dialysis, kidney transplant is the best option. As the cause of kidney failure is variable, the chance of recovery need to be assessed with your kidney specialist on individual basis.
Patients with acute kidney failure (for different reasons) may need dialysis only temporarily.
melanie: Does early detection make a huge difference in the treatment and progression of this disease? My step-father went through years of pain and misdiagnosis before he was finally diagnosed with PKD. If he had been diagnosed sooner, would it have made a big difference? He is now at the point where his doctors are talking transplant.
Speaker_-__Dr__Surafel_Gebreselassie: Currently, there is no curative treatment for PKD.
Hypertension is very common in patients with PKD and can contribute to progression of kidney failure, if not well controlled. Under a physician’s care and regular monitoring, current recommendations for treatment of PKD include blood pressure control, a low salt diet, regulated increased fluid intake, avoiding caffeine and methylxanthines. End stage kidney disease requiring dialysis or transplantation typically occurs by age 56 for those with PKD1 (severe form) and at 70 years or more for PKD2 (mild form). Tolvaptan (medication used for low blood sodium levels) was studied for the indication of slowing kidney disease in adults at risk for rapidly progressing autosomal dominant polycystic kidney disease (ADPKD) but was not approved by the FDA.
PKD & Genetics
clinketyclank: My husband has PKD. We have one child, and I know that he has a 50/50 chance of also having it. If he does not have it, can he be, like a ‘carrier,’ and pass it on to his children? I know that this is so in some genetic disorders.
Speaker_-__Dr__Surafel_Gebreselassie: The most common form of PKD in adults is autosomal dominant PKD. You either have it or you don't. If your son does not have it, he is not a carrier.
If your husband has autosomal dominant PKD and your child does not have PKD, then there is no chance that he is a carrier.
If your husband has autosomal recessive PKD, there is a chance that he could be a carrier.
bringit: I have PKD and have had one child, with some minor complications. We are now both fine, although my blood pressure remains high, even with medications. I want to have another child. Can I expect the same complications or worse ones? Is there any way to prevent complications with pregnancy and this disease?
Speaker_-__Dr__Surafel_Gebreselassie: Pregnant patients with PKD overall have significantly higher frequencies of hypertension, edema, preeclampsia and renal complications. Although we don't know the specific complications you had with your first pregnancy, high risk patients would need close antenatal follow-up. Patients with PKD and decreased renal function are at an even higher risk. Medications used for blood pressure called angiotensin converting enzyme inhibitors (such as Lisinopril) and angiotensin receptor blockers, are not recommended and need to be stopped prior to conception. We recommend that you see your physician/kidney specialist for specific recommendations.
jabraner: Can a person with PKD drink alcohol, or will this hurt them? My brother-in-law says it is okay, but I question that.
Speaker_-__Dr__Surafel_Gebreselassie: Alcohol consumption has been shown to be a risk factor for subarachnoid hemorrhage. Patients with PKD and a family history of subarachnoid hemorrhage have a higher risk for subarachnoid hemorrhage (which is bleeding in the brain). In general, I do not recommend excessive alcohol consumption.
Cleveland_Clinic_Host: I'm sorry to say that our time with Dr. Surafel Gebreselassie is now over. Thank you again Dr. Gebreselassie for taking the time to answer our questions about polycystic kidney disease (PKD).
Speaker_-__Dr__Surafel_Gebreselassie: Thank you for your time today. I will try to answer some of the questions that we did not have time to get to today. Please check back to view the transcripts for these answers. You can find the transcripts at clevelandclinic.org/health. If you would like to make an appointment with myself or one of our other nephrologists, you can reach us at the Glickman Urological & Kidney Institute’s Department of Nephrology and Hypertension by calling 800.223.2273, ext. 46771. You can also visit us online at clevelandclinic.org/nephrology.
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