Case report and narrative review of the diagnosis and treatment of Alagille syndrome in an adult pregnant patient
Year: 2025
Type: review
Study design: Case Report
Abstract: Alagille syndrome is a genetic disorder with an autosomal dominant hereditary pattern. Clinical manifestations include craniofacial, ocular, cardiac, hepatic, renal, vascular, and skeletal abnormalities with varying phenotypic penetrance; therefore, treatment would be targeted to the affected organs. A successful pregnancy in this pathology is uncommon and depends on the maternal features, particularly those that involve the cardiovascular and hepatobiliary systems. The objective of the manuscript is to present the case of a 24-year-old pregnant woman with a diagnosis of Alagille syndrome, her therapeutic challenge, and associated conditions.
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4415614476
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