- 47 Downloads
Mutations in Plasmalemma Vesicle Associated Protein cause severe syndromic Protein-Losing Enteropathy
I. Broekaert1, K. Becker1, 2, I. Gottschalk3, F. Körber4, J. Dötsch1, H. Thiele5, J. Altmüller5, P. Nürnberg5, C. Hünseler1, S. Cirak1, 2
1Department of Pediatrics, University Hospital Cologne;2Center for Molecular Medicine Cologne, University of Cologne;3Department of Gynecology, University Hospital Cologne;4Department of Radiology, University Hospital Cologne;5Cologne Center for Genomics, University of Cologne
Background: Protein-losing enteropathy (PLE) is characterized by gastrointestinal protein leakage due to loss of mucosal integrity or lymphatic abnormalities. Congenital diarrhea with protein loss needs to be differentiated from congenital diarrheal disorders (CDDs). Primary PLEs are genetically heterogeneous and the underlying genetic defects are currently emerging.
Objectives:We report an infant with fatal PLE for whom we aimed to uncover the underlying...