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Progressive Familial Intrahepatic Cholestasis

What is Progressive Familial Intrahepatic Cholestasis?

Progressive Familial Intrahepatic Cholestasis is a rare, severe, and genetically inherited liver disease in which the flow of bile from the liver is blocked even though the bile ducts are open. Bile is produced in the liver and has the role of removing toxins and aids in breaking down fats in food. Due to the genetic defect, the liver cells are damaged and this prevents the body from absorbing fats and vitamins properly.

 

Progressive Familial Intrahepatic Cholestasis is a rare, severe, and genetically inherited liver disease in which the flow of bile from the liver is blocked even though the bile ducts are open. Bile is produced in the liver and has the role of removing toxins and aids in breaking down fats in food. Due to the genetic defect, the liver cells are damaged and this prevents the body from absorbing fats and vitamins properly.
Acknowledgement of Progressive Familial Intrahepatic Cholestasis has not been added yet.
Prevalence Information of Progressive Familial Intrahepatic Cholestasis has not been added yet.
Synonyms for Progressive Familial Intrahepatic Cholestasis has not been added yet.
a genetic mutation in ATP8B1 gene, hereditary, and is autosomal recessive
jaundice (yellowing of the skin and eyes), pruritis (very itchy skin), elevated serum GGT levels, white stools
Diagnosis of Progressive Familial Intrahepatic Cholestasis has not been added yet.
Diagnostic tests of Progressive Familial Intrahepatic Cholestasis has not been added yet
Ursodeoxycholic acid (Ursodiol), Rifampin, nasobilary drainage
depends on severity.. some have mild forms and can have minimal scarring, others progress very rapidly and could require liver transplantation in order to survive
Tips or Suggestions of Progressive Familial Intrahepatic Cholestasis has not been added yet.
References of Progressive Familial Intrahepatic Cholestasis has not been added yet.
Genetic Discrimination Created by jamieb012606
Last updated 22 Jul 2011, 09:14 PM

Posted by jamieb012606
22 Jul 2011, 09:14 PM

Both of my children have been denied insurance coverage because of genetic diseases, how can this be ethical? I thought the GINA Act is supposed to protect us?

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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.
  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.

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Genetic Discrimination

Created by jamieb012606 | Last updated 22 Jul 2011, 09:14 PM


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