Peer mentor resource guide

We are excited that you are joining the PKD Connect Peer Mentor team! The PKD Connect staff is here to help you prepare for your mentoring role and provide the support and training you need to be successful.

ADPKD

https://pkdcure.org/what-is-adpkd/ 

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening genetic diseases. In ADPKD, fluid-filled cysts develop and enlarge in both kidneys, eventually leading to kidney failure. It is the fourth leading cause of kidney failure and more than 50 percent of people with ADPKD will develop kidney failure by age 50. Once a person has kidney failure, dialysis or a transplant are the only options. 

Unlike some genetic diseases, ADPKD does not skip a generation meaning it often affects many people in one family. Approximately 10 percent of the people diagnosed with ADPKD have no family history of the disease, with the disease developing as a spontaneous (new) mutation. Once a person has ADPKD, even through a spontaneous mutation, they have a 50 percent chance of passing it on to each of their children. 

Resource Library 

PKD Basics 

ARPKD

https://pkdcure.org/what-is-arpkd/ 

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder occurring in approximately 1 in 25,000 children. It affects boys and girls equally and can cause death in the first month of life. If a child with ARPKD survives the newborn period, the chances of survival are good. For these children, approximately one-third will need dialysis or transplantation by the age of 10. 

Resource Library 

PKD Basics 

Biopsy

PKD is usually not diagnosed by biopsy. Usually, patients are diagnosed by ultrasound.

Blood pressure

pkdcure.org/what-is-pkd/adpkd/what-are-the-symptoms/

Blood pressure is a measurement of the force of the blood as it flows through the body.

High blood pressure or hypertension affects about 60 -70 percent of people with ADPKD and begins early in the course of the disease. Many times, the increase in blood pressure will be the first sign of ADPKD and is the primary reason a person gets tested.

High blood pressure should be treated aggressively. If left untreated, hypertension causes further damage to the kidneys, enlarges and thickens the heart muscle and increases the risk for strokes and other cardiovascular events.

Resources:

Webinar – The HALT_PKD study: What do the results of this study mean for me?

pkdcure.org/resource/halt-pkd-study-results/

Webinar – Hypertension and HALT PKD Study Results

youtube.com/watch?list=PLm8pivZkga9iPwY5vZcU8TBI4F5xHzWoQ&v=M6ufGZwmLok

Caffeine

pkdcure.org/living-with-pkd/nutrition/

There is no direct evidence that caffeine will damage your polycystic kidneys. However, studies of PKD cells grown in a lab have shown that caffeine-like substances promoted cyst growth in PKD. At this time, it may be wise to limit caffeine intake to less than 200 to 250 mg per day.

Caregivers

https://connect.pkdcure.org/caregivers/ 

Caring for a loved one with PKD can be a stressful.  It is easy to feel overwhelmed and unable to cope. Find more information about symptoms related to stress and self-care at the link above. 

Resource Library: 

Caregivers need self care, too! 

Talking about PKD – Patients and caregivers share experiences talking with friends and family 

Clinical trials

clinicalstudiespkdcure.org

Patients play a key role in the research and development process by volunteering to participate in clinical studies. From observational studies to clinical trials, you can help researchers unlock the secrets of PKD and find a treatment by participating in a study

The link provided will direct you to a list of studies that are currently recruiting participants. Use the contact information provided to find out how to participate.

Children and PKD

https://pkdcure.org/what-is-adpkd/parents-of-children-with-pkd/ 

PKD affects children as well as adults. Cystic kidney disease in children can dramatically affect quality of life for children who have it.  Our PKD Parents Chapter supports parents of children with PKD. 

Resource Library 

Managing family life when your child has PKD 

How to talk to children about PKD 

Basics of clinical care for children with ARPKD and ADPKD 

Advocating for your child – Communication is key 

Day to day living for children with PKD 

ARPKD Patient Handbook 

ADPKD Patient Handbook 

Genetics – PKD genes and how they work 

Cysts

https://pkdcure.org/what-is-adpkd/what-are-cysts/ 

A cyst in the kidney begins as an outpouching of the nephron, similar to a blister, and can occur any where along the length of the nephron. Cysts can also form in other organs, with the liver being the most common site. 

Creatinine

Creatinine is a measure of kidney function. It is a waste product of muscle metabolism (the work the muscles do). After creatinine leaves the muscles, it enters into the blood, then is filtered by the kidneys and ends up in the urine. There is always some creatinine in the blood and some in the urine. When there is a loss in kidney function, the kidneys do not clear creatinine from the blood as efficiently as they once did. This causes an increase of creatinine in the blood, which can be measured by a simple blood test.

Diagnosing ARPKD

https://pkdcure.org/what-is-arpkd/how-is-arpkd-diagnosed/ 

Many children with ARPKD are diagnosed before birth if prenatal ultrasound shows enlarged, bright-appearing or echogenic kidneys and low amniotic fluid levels.  

Children diagnosed with ARPKD later in childhood generally have milder disease progression.  

Resource Library: 

What is ARPKD? 

Basics of clinical care for children with ARPKD and ADPKD 

Genetics – PKD genes and how they work 

ARPKD Patient Handbook

ADPKD Patient Handbook

Diagnosing ADPKD

pkdcure.org/what-is-pkd/adpkd/how-is-adpkd-diagnosed/

Currently, there are three main clinical tests that can be used to diagnose a person with PKD: ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI).

Ultrasound is the most common and least costly screening method for ADPKD.

Testing children

pkdcure.org/what-is-pkd/adpkd/how-is-adpkd-diagnosed/

The question of whether or not to have your child / children tested for PKD is a difficult and personal one. Once a diagnosis is confirmed by imaging or genetic testing, it becomes part of an individual’s health records.

PKD patients get diagnosed at all different ages.

Dialysis

pkdcure.org/living-with-pkd/dialysis/

Dialysis is a kidney replacement option, when transplant is not immediately available, that does some of the things healthy kidneys do. It is needed when your own kidneys fail or can no longer function well enough to take care of your body’s needs.

There are two main types of dialysis: hemodialysis and peritoneal dialysis.

Resource Library: 

Dialysis 101 

Kidney Failure – What to expect

Financial assistance resources

connect.pkdcure.org/resources-and-education/financial-assistance

The cost of managing chronic kidney disease can be expensive, especially once your disease progresses to kidney function decline and kidney failure. We have gathered some financial assistance resources that might help you afford different aspects of your care. 

How will I know when I need a transplant or dialysis?
Renal replacement in the form of dialysis is typically recommended when the GRF is about 10 percent. However, this does require planning, discussion with your nephrologist about dialysis modalities and what will work best for you and placement of dialysis access in advance. Your nephrologist will not only be looking at the creatinine level, but also how you are feeling (signs and symptoms) and other electrolyte imbalances.

Dialysis 101 

Kidney failure – what to expect 

How do I find a dialysis center in my area

To find a dialysis center near you and find out how it ranks in terms of quality and care, you can go use the “Dialysis Center Comparison” tool provided by the Department of Health and Human Services. To access this tool, click here.

If you are looking to change dialysis facilities because you are not happy with your current center, keep in mind you may also need to change doctors.

Genetics and genetic testing

pkdcure.org/what-is-pkd/adpkd/how-is-adpkd-diagnosed/

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two genes. Mutations of the first gene, PKD1, account for about 85 percent of patients while mutations of the second gene, PKD2, account for the remaining patients. Recently, another gene thought to case the disease, GANAB, was discovered in a small number of patients. 

https://pkdcure.org/what-is-pkd/adpkd/how-is-adpkd-diagnosed/ 

Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the PKHD1 gene. In recessive disorders such as ARPKD, the child must inherit a copy of the PKHD1 gene from each parent. Since the parents each have only one copy of the disease gene, they do not have the disease and are referred to as “carriers.” Parents carrying the mutated PKHD1 gene have a 25 percent chance that each child will have ARPKD. There is also a 50 percent chance each child will not have ARPKD but will be a carrier of the disease. 

To find information about genetic testing visit, Financial Resources page.

Resource Library:  

Genetics testing panel 

Genetics – How your genes impact your family tree  

Genetics: PKD genes and how they work 

PKD genetics 

Insurance and Medicare

Employer Group Health Plan (EGHP)

If you or your spouse are working, you may be eligible for insurance through your employer. Employers with 50 full-time employees or more must offer insurance to their employees. Children up to age 26 are eligible under parents’ insurance plan.

Affordable Care Act

If you do not have medical insurance through your employer, you can apply for individual insurance plans through the Affordable Care Act Marketplace. For more information, visit healthcare.gov.

Medicare

Patients that have ESRD (end stage renal disease) can apply for medicare coverage regardless of age.

medicare.gov/people-like-me/esrd/esrd.html

Medigap is extra health insurance that you buy from a private company to pay health care costs not covered by Original Medicare, such as co-payments, deductibles, and health care if you travel outside the US.

medicare.gov/supplement-other-insurance/when-can-i-buy-medigap/when-can-i-buy-medigap.html

Financial Assistance Resources

Kidney Donor

pkdcure.org/living-with-pkd/transplant/about-donating-your-kidney/

For more information about being a kidney donor, please contact a transplant center near you and ask for the living donor coordinator.

Resource Library:

Living Donation 

Guide to Transplantation & Living Donation 

 

Kidney failure

Signs of kidney failure are:

  • Fatigue
  • Poor appetite
  • Nausea/vomiting
  • Trouble concentrating (in severe cases, confusion)
  • Dry, itchy skin, especially if phosphate is high
  • Funny taste in your mouth; food tastes funny, metallic
  • Muscle cramps at night
  • Swelling in feet and ankles

Resource Library:

Understanding your risk for ADPKD progression 

Best practices for disease management – working with your doctor 

Kidney failure – what to expect 

Kidney stones

Kidney stones occur in about 20 to 30 percent of people who have ADPKD as compared to one to two percent of the general population.

The symptoms of kidney stones are severe pain in the back, side or into the groin. Often there will be blood in the urine when passing a kidney stone.

Resource Library:

Kidney Stones webinar

 ADPKD Patient Handbook

Medications to avoid

pkdcure.org/living-with-pkd/working-with-your-doctor/

In general, you should avoid any medication that could harm your kidneys or affect your blood pressure. This includes:

  • Non-Steroidal Anti-inflammatory Agents, such as Advil, Motrin and Aleve: If you have pain, use can use safe doses of Tylenol or Ultram.
  • Cold or allergy pills with pseudafed (pseudoephedrine): These can raise your blood pressure.
  • Over-the-counter diet pills: These may contain diuretics or stimulants.

Herbal supplements – discuss any herbal supplements with your physician

As always, you should consult your physician/nephrologist before taking any over-the-counter medications and supplements. He or she can help you weigh the risks and benefits, depending on your degree of renal dysfunction.

Resource Library:

Best practices for disease management – Working with your doctor

ADPKD Patient Handbook

Nephrectomy - kidney removal

pkdcure.org/living-with-pkd/donating-pkd-affected-kidneys-for-research/

Nephrectomy is a surgery to remove your kidney. The decision whether or not to have a nephrectomy should be made with your physician on a case by case basis.

Resource Library:

Nephrectomy surgery – Understanding risks and benefits

Nutrition

pkdcure.org/living-with-pkd/nutrition/

Currently no specific diet has been proven to slow progression of PKD. It is, however, ideal to eat a balanced and healthy diet to maintain optimal body conditions. A healthy body is able to fight infection better, and bounce back faster.

Resource Library:

 Cooking Well: Delicious, everyday recipes for the PKD family 

Nutritional Considerations for PKD Patients 

Managing nutrition as dietary needs change from pre-dialysis to post transplant 

Pain management

pkdcure.org/living-with-pkd/chronic-pain-management/

Chronic pain is one of the most common problems for patients with PKD. The pain is usually in the back or the side and occasionally in the stomach. It can be intermittent and mild requiring only occasional pain medicine such as acetaminophen (Tylenol). However, in a small number of patients with severe PKD, the pain can be constant and more severe.

If you are experiencing pain, it is important to consult your physician.

Resource Library:

Pain Management 

ADPKD Patient Handbook

Pre-implantation genetic diagnosis (PGD)

https://pkdcure.org/what-is-arpkd/how-is-arpkd-diagnosed/ 

This is an early form of genetic diagnosis that involves the detection of specific genetic abnormalities in single cells taken from fertilized human embryos. The PGD procedure involves in vitro fertilization whereby eggs harvested from a mother are fertilized in a laboratory with the father’s sperm. Then, the fertilized embryos are tested for ARPKD by removing one or two cells for genetic analysis. Embryos that are diagnosed as free of the disorder are then placed in the uterus with the intent to initiate a pregnancy. 

Resource Library: 

Family planning and reproductive success 

Pregnancy and PKD

pkdcure.org/living-with-pkd/pregnancy-and-pkd/

The diagnosis of ADPKD is no longer only made years after a person has had a family. The use of noninvasive ultrasonography has made the testing for ADPKD safe for all ages. Thus, screening specifically for ADPKD or finding evidence of ADPKD while doing an ultrasound for other reasons has made early diagnosis a more common occurrence. As the age of diagnosis is lower, an understanding of the risks of pregnancy in women with ADPKD is important.

Generally, women with ADPKD who have normal blood pressure and normal kidney function have uneventful pregnancies and deliver healthy babies. Risk factors associated with pregnancy and ADPKD are due to increased blood pressure.

It is important for a woman with ADPKD to be closely monitored during pregnancy whether she has hypertension or not.

The decision to have children is a very personal one. It is important to discuss concerns with your doctor.

Resource Library:

Family planning and achieving reproductive success

ADPKD Patient Handbook

Spontaneous mutation

pkdcure.org/what-is-pkd/adpkd/

Approximately 10% of patients with PKD are the result of a spontaneous mutation meaning that there is no family history of the disease and the disease is due to a spontaneous mutation of the PKD1 or PKD2 gene.

Slow or stop progress of PKD

There are several things patients can do to try to delay the onset of renal failure:

  • Control blood pressure.
  • Control cardiovascular risk factors by maintaining a healthy diet, maintaining healthy body weight, exercising regularly, avoiding smoking, etc.
  • As with any other kind of kidney disease, avoiding medications that could possibly injure the kidneys. Discuss all medications with your physician.

Resource Library:

Understanding your risk for ADPKD progression 

Best practices for disease management – working with your doctor 

Symptoms of ADPKD

pkdcure.org/what-is-pkd/adpkd/what-are-the-symptoms/

Common symptoms include:

  • High blood pressure
  • Chronic pain or heaviness in the back, sides or abdomen
  • Blood in the urine
  • Urinary tract infection (UTI)
  • Kidney stones

Resource Library:

PKD Basics

ADPKD Patient Handbook

Symptoms of ARPKD

https://pkdcure.org/what-is-arpkd/what-are-the-symptoms/ 

 

Prenatal symptoms 

  • Diminished amniotic fluid levels during pregnancy 
  • Enlarged kidneys on fetal ultrasound 
  • Lung immaturity and functioning issues 

Symptoms immediately after birth 

  • Enlarged kidneys due to cysts 
  • Breathing problems due to lack of space because of enlarged kidneys and decreased urine production. Ventilation is frequently required to sustain life. 
  • Excessive urine production 
  • Hypertension 
  • Growth problems 
  • Congenital hepatic fibrosis 
  • Enlarged spleen with low red blood cell, white blood cell and platelet counts 

Resource Library 

Basics of clinical care for children with ARPKD and ADPKD 

ARPKD Patient Handbook 

Transplantation

pkdcure.org/living-with-pkd/transplant/pre-transplant-preparation/

 

When you and your doctor agree it is time for you to be evaluated for a transplant, you undergo a series of tests to assess your options. You’ll be evaluated for potential issues like heart disease, obesity, and diabetes. A social worker or transplant coordinator will discuss the logistics with you as well; things like transportation, housing, financial and family support will all be considered.

Resource Library:

Transplantation – From evaluation to transplant surgery

Preemptive transplant panel discussion

Post-transplant- What to expect

Contact us

844-PKD-HOPE

 

Nicole Harr
Director of Community Engagement
nicoleh@pkdcure.org
816-268-8483

Page last reviewed October 2021