Sex differences and risk factors for bleeding in Alagille syndrome.

ABSTRACT: Spontaneous bleeds are a leading cause of death in the pediatric JAG1-related liver disease Alagille syndrome (ALGS). We asked whether there are sex differences in bleeding events in patients, whether Jag1^Ndr/Ndr mice display bleeds or vascular defects, and whether discovered vascular pathology can be confirmed in patients non-invasively. We performed a systematic review of patients with ALGS and vascular events following PRISMA guidelines, in the context of patient sex, and found significantly more girls than boys reported with spontaneous intracranial hemorrhage. We investigated vascular development, homeostasis, and bleeding in Jag1^Ndr/Ndr mice, using retina as a model. Jag1^Ndr/Ndr mice displayed sporadic brain bleeds, a thin skull, tortuous blood vessel

SUBMITTER: Hankeova S 

PROVIDER: S-EPMC9728057 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature