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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.
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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.
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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.

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