Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Autosomal Recessive Polycystic Kidney Disease

What is Autosomal Recessive Polycystic Kidney Disease ?

Autosomal recessive polycystic kidney disease or ARPKD is a rare genetic disease characterized by the development of cysts (sacs full of fluid) in both kidneys that can eventually lead to kidney damage and kidney failure. It also affects the liver causing hepatic fibrosis, which is the development of fiber-like (scar) tissue in the liver. The symptoms of the disease are not restricted to the kidneys and liver. High blood pressure (hypertension), excessive urination (polyuria), excessive thirst (polydipsia) and distinctive facial features might also be present. The severity and symptoms of the disease vary from person to person. The disorder is highly variable; some individuals may only have a few cysts on the kidneys, while others may have hundreds. Sometimes, individuals experience kidney damage and failure in childhood, while others remain undiagnosed until they are teen-agers or adults.

It is caused by mutations in the PKHD1 gene, which provides the blueprint for the generation of a protein called fibrocystin or polyductin. The exact function of fibrocystin is not currently known.

 

Autosomal recessive polycystic kidney disease or ARPKD is a rare genetic disease characterized by the development of cysts (sacs full of fluid) in both kidneys that can eventually lead to kidney damage and kidney failure. It also affects the liver causing hepatic fibrosis, which is the development of fiber-like (scar) tissue in the liver. The symptoms of the disease are not restricted to the kidneys and liver. High blood pressure (hypertension), excessive urination (polyuria), excessive thirst (polydipsia) and distinctive facial features might also be present. The severity and symptoms of the disease vary from person to person. The disorder is highly variable; some individuals may only have a few cysts on the kidneys, while others may have hundreds. Sometimes, individuals experience kidney damage and failure in childhood, while others remain undiagnosed until they are teen-agers or adults.

It is caused by mutations in the PKHD1 gene, which provides the blueprint for the generation of a protein called fibrocystin or polyductin. The exact function of fibrocystin is not currently known.

Acknowledgement of Autosomal Recessive Polycystic Kidney Disease has not been added yet.

6.5http://www.orpha.net

Synonyms for Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Cause of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Symptoms for Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Diagnosis of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Diagnostic tests of Autosomal Recessive Polycystic Kidney Disease has not been added yet
Treatments of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Prognosis of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Tips or Suggestions of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
References of Autosomal Recessive Polycystic Kidney Disease has not been added yet.
Logo

Autosomal Recessive Polycystic Kidney Disease community discussions will be posted here.

There are no new discussions. Start one now!!

Community External News Link
Title Date Link
Community Resources
Title Description Date Link

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

Expert Questions

Ask a question

Community User List

Still searching

Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Logo

Autosomal Recessive Polycystic Kidney Disease community discussions will be posted here.

There are no new discussions. Start one now!!


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.