Resource Guide

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 

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

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.

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 

davita.com/kidney-disease/overview/stages-of-kidney-disease

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.

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 

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 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.

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

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.

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

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. 

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.

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 

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 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

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

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

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

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 

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.

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 

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 

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