ArticleKorean journal of pediatrics2015
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center.
Article in Korean journal of pediatrics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.Journal of comparative effectiveness research · 2025Pooled it
- A Rare Coexistence of Biliary Atresia and Alagille Syndrome in a Neonate: Clinical Implications of Dual Etiology in Neonatal Cholestasis.Diagnostics (Basel, Switzerland) · 2026Article
- Article
- Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome.European journal of case reports in internal medicine · 2024Article
- Pulmonary artery pathologies in Alagille syndrome: a meta-analysis.Postepy w kardiologii interwencyjnej = Advances in interventional cardiology · 2022Review
- Genome-Wide Interaction Study of Late-Onset Asthma With Seven Environmental Factors Using a Structured Linear Mixed Model in Europeans.Frontiers in genetics · 2022Article
- Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Investigative ophthalmology & visual science · 2021Observational
- Alagille Syndrome: A Novel Mutation inFrontiers in pediatrics · 2019Article
- A Novel c.91dupGCase reports in genetics · 2018Article
- Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Oncogenic role of the Notch pathway in primary liver cancer.Oncology letters · 2016Article
- Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study.Pediatric gastroenterology, hepatology & nutrition · 2015Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAlagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis.
methodsWe conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013.
resultsThe first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001).
conclusionThe group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.
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