The Renal Sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development

  • René RomeroEmail author


The renal manifestations of Alagille syndrome (ALGS) are an under-recognized, but clinically important component of the syndrome. Abnormalities in the Notch signaling pathway as a consequence of JAG1 and NOTCH2 mutations result in the diverse manifestations of ALGS. Notch signaling plays a central role in the development of multiple tissues and organs but particularly of the kidneys. Understanding the role of Notch signaling in renal development helps inform clinicians as to the more common renal findings in ALGS and the expectation of renal disease in these patients. Additionally, the Notch signal pathway plays a role in the evolution of chronic renal injury. How that response to renal injury is altered in ALGS and its impact on the clinical sequelae in ALGS is not known. Given the frequency of renal findings in ALGS, kidney specialists should form part of the multidisciplinary care team for these patients.


Alagille syndrome Kidney Renal JAG1 Notch Development Manifestations Sequelae 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and NutritionEmory University School of Medicine, Children’s Healthcare of Atlanta-EglestonAtlantaUSA

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