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Congenital Chloride Diarrhea

What is Congenital Chloride Diarrhea?

Congenital Chloride Diarrhea is a rare genetic caused by a mutation on gene SLC26A3. It is a life long diarhhea. Patients need salt substitute NaCl/KCl and gastroenteritis may be serious.

 

Congenital Chloride Diarrhea is a rare genetic caused by a mutation on gene SLC26A3. It is a life long diarhhea. Patients need salt substitute NaCl/KCl and gastroenteritis may be serious.
Acknowledgement of Congenital Chloride Diarrhea has not been added yet.
Prevalence Information of Congenital Chloride Diarrhea has not been added yet.
Synonyms for Congenital Chloride Diarrhea has not been added yet.
Mutation in SLC26A3, down regulated adenoma.
Life long diarhhea,
Diagnosis of Congenital Chloride Diarrhea has not been added yet.
Diagnostic tests of Congenital Chloride Diarrhea has not been added yet
Salt substitude, butyrate, omeprazol
Prognosis of Congenital Chloride Diarrhea has not been added yet.
Tips or Suggestions of Congenital Chloride Diarrhea has not been added yet.
References of Congenital Chloride Diarrhea has not been added yet.
Hello! Created by Hjarttainen
Last updated 23 May 2016, 04:46 AM

Posted by Hjarttainen
22 May 2016, 04:26 AM

Hello everyone! I wish you still follow this forum. I`m a Finnish mother of child who has cld. We have a Finnish group of cld patients and their families on facebook. On facebook there is also group maintained by Austrian mother who tries to find others who have cld. Please ask if you need researches about cld, I have found a lot and saved them.

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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.

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Hello!

Created by Hjarttainen | Last updated 23 May 2016, 04:46 AM


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