Year: 2021
Type: article
Study design: Case Report
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.
Authors: Catarina Abrantes, Teresa Furtado, Patrícia Domingues, Patrícia Valério, Joana Felgueiras, José Assunção, Álvaro Vaz
Institution: Hospital de São Bernardo
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W3205569007