University of Groningen
Rare cholestatic childhood diseases
van Wessel, Daan
DOI:
10.33612/diss.133430251
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Publication date: 2020
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van Wessel, D. (2020). Rare cholestatic childhood diseases: Advances in clinical care. University of Groningen. https://doi.org/10.33612/diss.133430251
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Rare cholestatic childhood diseases
Advances in clinical care
D.B.E. van Wessel
RARE CHOLESTATIC CHILDHOOD DISEASES Advances in clinical care
The research described in this thesis was financially supported by the University Medical Centre Groningen, the University of Groningen, the European Society for Paediatric Gastroenterology, Hepatology and Nutrition, and by unrestrictive research grants from Albireo and Mirum Pharmaceuticals.
Printing of this thesis was financially supported by Ausnutria, Nestlé Health Science, Noord Negentig, Zambon Pharma, the University Medical Centre Groningen, the University of Groningen and the Graduate School of Medical Sciences.
Their support is kindly acknowledged.
Cover design by Rutger van Aken, persoonlijkproefschrift.nl Layout by Rutger van Aken, persoonlijkproefschrift.nl Printed by Ridderprint B.V.
Copyright © Daan van Wessel, Groningen, The Netherlands 2020
All rights reserved. No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form without written permission of the author.
Rare cholestatic childhood diseases:
advances in clinical care
Proefschrift
ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. C. Wijmenga en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op woensdag 7 oktober 2020 om 16.15 uur
door
Daan Ben Egbert van Wessel
geboren op 30 december 1991 te Enschede
PROMOTORES
Prof. dr. H.J. Verkade Prof. dr. J.B.F. HulscherCOPROMOTOR
Dr. ir. H.J.M. HarmsenBEOORDELINGSCOMMISSIE
Prof. dr. R.J. Porte Prof. dr. F. Kuipers Prof. dr. C. PetersenPARANIMFEN
Nienke H.A. van Wessel Daan Ties
CONTENT
Chapter 1 Introduction and outline of thesis 11
PART I - Biliary atresia 39
Chapter 2 Prognosis of biliary atresia after 2-year survival with native liver: a nationwide cohort analysis
41
Chapter 3 Preterm infants with biliary atresia: a nationwide cohort analysis from the Netherlands
57
Chapter 4 A higher incidence of isolated biliary atresia in rural areas: results from an epidemiological study in the Netherlands
71
Chapter 5 The gut microbiota composition of patients with biliary atresia prior to kasai portoenterostomy is associated with clearance of jaundice
PART II – Progressive Familial Intrahepatic Cholestasis 119
Chapter 6 Genotype correlates to the natural history of severe bile salt export pump deficiency
121
Chapter 7 Predictability of the disease course in patients with compound heterozygous ABCB11 mutations and residual bile salt export pump function
171
Chapter 8 Impact of genotype serum bile acid concentrations and surgical biliary diversion on native liver survival in FIC1 deficiency – natural history data from the NAPPED Consortium
193
Chapter 9 General discussion and future perspectives 221
Appendices 263
Abbreviations 264
English summary 266
Nederlandse samenvatting 271 List of publications 276 List of contributing authors 278 Acknowledgement / dankwoord 284
