jueves, 23 de marzo de 2017

Is there anyone with progressive familial intrahepatic cholestasis type 3 - RareConnect Discussion Groups

Is there anyone with progressive familial intrahepatic cholestasis type 3 - RareConnect Discussion Groups

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Is there anyone with progressive familial intrahepatic cholestasis type 3

My daughter Laura, 16 years old having reasently er diagnosed with this disease PFIC 3
PFIC3 is due two mutations in the ABCB4 gene (7q21), encoding the multi-drug resistant 3 protein (MDR), resulted thing in impaired biliary phospholipid (PL) secretion. This lead two cholangitis and cirrhosis.
We are lucky That she RESPOND positive til medicine, but quit feeling isolated. And really would like to here from others with the same or similary disease.

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