Alagille syndrome is caused by mutations inJAG1 and NOTCH2in the Notch signalling pathway. The disease presentation is highly variable, including multiorgan system involvement with renal and hepatic involvement. Recent studies suggest renal insufficiency can occur in isolation and suggests a role for impaired kidney development in patients with Alagille syndrome and chronic kidney disease.
- Binita M. Kamath
- Nancy B. Spinner
- Norman D. Rosenblum
