KOSEK - national coordination of rare diseases

The SSPGHN is committed to helping children and young adults with rare diseases. Our members take a leading role in the rare liver network initiative.

The Swiss health booklet for newborns includes a screening card for biliary atresia. In biliary atresia, the bile ducts become atretic and bile cannot be excreted in the stool, resulting in pale stools. Since early surgery (“Kasai operation”) is required for a good prognosis, early detection of the disease is essential. An easy-to-use screening tool is the stool color card. The stool color of a newborn is compared with the examples provided on the card and discolored stools are identified. The pediatrician can then initiate further tests if necessary.

Morbus Gilbert- Meulengracht is a genetic variant in which the liver does not properly metabolize bilirubin. During infection or fasting yellow sclera may be obvious. There is no need for treatment.

In cases of acute or chronic liver failure, liver transplantation is the treatment of last resort. After transplantation, the host's immune system will fight the foreign body, which is why long-term immunosuppressive medication is required. Since liver transplantation is fortunately rarely necessary and not a handful of children and adolescents need a liver transplant every year in Switzerland, liver transplantations are only performed at the University Children's Hospital in Geneva for all Swiss under the age of 16.