Case report and narrative review of the diagnosis and treatment of Alagille syndrome in an adult pregnant patient
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.
Authors
- Lorena García Agudelo (ORCID: https://orcid.org/0000-0001-9557-0900)
- Alejandro Rojas Urrea (ORCID: https://orcid.org/0009-0005-5990-106X)
- Daniela Marino (ORCID: https://orcid.org/0000-0002-6615-1413)
- Fernanda E. Landines-Peña (ORCID: https://orcid.org/0009-0001-4542-5470)
- Brumel Armando Niño-Patarroyo (ORCID: https://orcid.org/0009-0006-4044-162X)
Publication Details
- Journal
- Gynecology Obstetrics and Reproductive Medicine
- Published
- 2025-10-28
- DOI
- https://doi.org/10.21613/gorm.2025.1610
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00