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.

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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
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article

Case report and narrative review of the diagnosis and treatment of Alagille syndrome in an adult pregnant patient

Lorena García Agudelo, Alejandro Rojas Urrea, Daniela Marino, Fernanda E. Landines-Peña et al.
Gynecology Obstetrics and Reproductive Medicine
Pediatric Hepatobiliary Diseases and Treatments
article

Case report and narrative review of the diagnosis and treatment of Alagille syndrome in an adult pregnant patient

Lorena García Agudelo, Alejandro Rojas Urrea, Daniela Marino, Fernanda E. Landines-Peña, Brumel Armando Niño-Patarroyo
article en

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.

Gynecology Obstetrics and Reproductive Medicine
Openalex Percentile: Top 51%
Pediatric Hepatobiliary Diseases and Treatments
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