Alagille Syndrome: An ultrafiltration dilema

• Main Author: Abrantes,Catarina
• Publication Date: 2021
• Other Authors: Furtado,Teresa, Domingues,Patrícia, Valério,Patrícia, Felgueiras,Joana, Assunção,José, Vaz,Álvaro
• Format: Report
• Language: eng
• Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
• Download full: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692021000300203
• topic: Alagille syndrome; JAG1 mutation; ultrafiltration; peritoneal dialysis.

ABSTRACT Alagille syndrome (AGLS) is a rare genetic disorder caused by mutations in the Notch signaling pathway. Multiple organ dysfunction is frequent despite phenotypic variability. We report the case of an AGLS patient with right heart failure and persistent fluid overload who started peritoneal ultrafiltration, without initial benefit. Possible pathophysiological mechanisms related to the underlying genetic condition, namely vascular abnormalities, that could help explain the poor ultrafiltration are provided, while other ultrafiltration failure causes are briefly discussed. New evidence is necessary for a better understanding of this syndrome in PD modality.