Rare cholestatic childhood diseases: Advances in clinical care

Abstract

Biliary atresia, severe FIC1 and severe BSEP deficiency (also known as PFIC1 and PFIC2) are rare cholestatic childhood diseases. The aim of this thesis was to identify novel targets of intervention for improving the prognosis of patients suffering these diseases. The studies conducted in this thesis demonstrate that national or global collaboration allows to obtain novel insights in the natural history of rare liver diseases and their responsiveness to specific treatments. These insights have already led to patient-tailored changes in treatments for these diseases and are expected to have more impact in the near future, not only for the care and counselling of individual patients but also for understanding the pathophysiology of these rare diseases. The studies underline the value, if not the necessity, of collaborative efforts of clinicians, authorities and patient advocates for improving the prognosis of patients with rare diseases and for the advancement of science.