Polycystic kidney disease (patient information)

Polycystic kidney disease

Overview

What are the symptoms?

What are the causes?

Who is at highest risk?

When to seek urgent medical care?

Diagnosis

Treatment options

Where to find medical care for Polycystic kidney disease?

What to expect (Outlook/Prognosis)?

Possible complications

Prevention

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Editors-in-Chief: C. Michael Gibson, M.S., M.D. Associate Editor-In-Chief: Ujjwal Rastogi, MBBS [1]

## Contents

* 1 Overview
* 2 What are the symptoms of Polycystic kidney disease?
* 3 What causes Polycystic kidney disease?
* 4 When to seek urgent medical care?
* 5 Diagnosis
* 6 Who is at highest risk?
* 7 Treatment options
* 8 Where to find medical care for Polycystic kidney disease?
* 9 What to expect (Outlook/Prognosis)?
* 10 Possible complications
* 11 Prevention

## Overview

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Polycystic kidney disease is a kidney disorder passed down through families in which multiple cysts form on the kidneys, causing them to become enlarged.

## What are the symptoms of Polycystic kidney disease?

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* Abdominal pain or tenderness
* Blood in the urine
* Excessive urination at night
* Flank pain on one or both sides

Additional symptoms that may be associated with this disease include the following:

* Drowsiness
* High blood pressure
* Joint pain
* Nail abnormalities
* Painful menstruation

## What causes Polycystic kidney disease?

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Polycystic kidney disease (PKD) is passed down through families (inherited), usually as an autosomal dominant trait. If one parent carries the gene, the children have a 50% chance of developing the disorder.

Autosomal dominant PKD occurs in both children and adults, but it is much more common in adults, with symptoms often not showing up until middle age. It affects nearly 1 in 1,000 Americans. The actual number may be more, as some people do not have symptoms. The disorder may not be discovered unless tests revealing the disease are performed for other reasons.

An autosomal recessive form of polycystic kidney disease also exists and appears in infancy or childhood. This type tends to be very serious and progresses rapidly, resulting in end-stage kidney failure and generally causing death in infancy or childhood.

Persons with PKD have multiple clusters of cysts form on the kidneys. The exact action that triggers cyst formation is unknown. In early stages of the disease, the cysts cause the kidney to swell, disrupting kidney function and leading to chronic high blood pressure and kidney infections. The cysts may cause the kidneys to increase production of erythropoietin, a hormone that stimulates production of red blood cells. This leads to too many red blood cells, rather than the anemia seen in chronic kidney disease.

Bleeding in a cyst can cause flank pain. Kidney stones are more common in people with PKD.

PKD is associated with the following conditions:

* Brain aneurysms
* Cysts in the liver, pancreas, and testes
* Diverticula of the colon

As many as half of people with PKD have cysts on the liver.

## When to seek urgent medical care?

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Call your health care provider if symptoms indicate polycystic kidney disease may be present.

Call for an appointment with your health care provider if there is a family history of polycystic kidney disease or associated disorders and children are planned. Genetic counseling may be offered.

## Diagnosis

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Examination may show high blood pressure, kidney or abdominal masses, abdominal tenderness over the liver, and enlarged liver.

There may be heart murmurs or other signs of aortic insufficiency or mitral insufficiency.

* A urinalysis may show urine protein or blood in the urine.
* A CBC may show decreased or increased RBCs and hematocrit.
* Cerebral angiography may show associated aneurysms.

Those with a personal or family history of PKD should be evaluated to determine if cerebal aneurysms are a cause of headaches.

Polycystic kidney disease and associated cysts on the liver or other organs may be detected with the following tests:

* Abdominal ultrasound
* Abdominal CT scan
* Abdominal MRI scan
* IVP

## Who is at highest risk?

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A personal or family history of PKD increases your risk for the condition. In a family with several members with PKD, genetic tests can be done to determine whether a person at risk carries the PKD gene.

## Treatment options

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The goal of treatment is to control symptoms and prevent complications. High blood pressure may be difficult to control, but control of it is the most important aspect of treatment.

Treatment may include:

* Blood pressure medicines
* Diuretics
* Low-salt diet
* Any urinary tract infection should be treated promptly with appropriate antibiotics.

Cysts that are painful, infected, bleeding, or causing an obstruction may need to be drained. (There are usually too many cysts to make removal a feasible alternative.)

Surgical removal of one or both kidneys may be required. Treatment of end-stage kidney disease may include kidney dialysis or kidney transplantation.

Support Groups The stress of an illness can often be helped by joining a support group where members share common experiences and problems.

## Where to find medical care for Polycystic kidney disease?

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Directions to Hospitals Treating Polycystic kidney disease

## What to expect (Outlook/Prognosis)?

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The disease gets worse slowly, eventually resulting in end-stage kidney failure. It is also associated with liver disease, including infection of liver cysts.

Medical treatment may provide relief of symptoms for many years.

The absence of systemic disease or autoimmune disease makes people with polycystic kidney disease good candidates for kidney transplantation.

## Possible complications

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* High blood pressure
* Anemia
* Recurrent urinary tract infection
* Recurrent kidney infection
* Kidney stones
* Kidney failure, mild to severe
* End-stage kidney disease
* Bleeding or rupture of cysts
* Infection of liver cysts
* Liver failure, mild to severe

## Prevention

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Currently, no treatment can prevent the cysts from forming or enlarging.

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