Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center

Ahn, Kyung Jin; Yoon, Ja Kyoung; Kim, Gi Beom; Kwon, Bo Sang; Go, Jung Min; Moon, Jin Su; Bae, Eun Jung; Noh, Chung Il

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자료유형: 학술저널

저자정보: Ahn, Kyung Jin (Department of Pediatrics, Seoul National University Children's Hospital) Yoon, Ja Kyoung (Department of Pediatrics, Seoul National University Children's Hospital) Kim, Gi Beom (Department of Pediatrics, Seoul National University Children's Hospital) Kwon, Bo Sang (Department of Pediatrics, Seoul National University Children's Hospital) Go, Jung Min (Department of Pediatrics, Seoul National University Children's Hospital) Moon, Jin Su (Department of Pediatrics, Seoul National University Children's Hospital) Bae, Eun Jung (Department of Pediatrics, Seoul National University Children's Hospital) Noh, Chung Il (Department of Pediatrics, Seoul National University Children's Hospital)

저널정보: 대한소아청소년과학회 Clinical and Experimental Pediatrics Korean journal of pediatrics 제58권 제10호

발행연도: 2015.1

수록면: 392 - 397 (6page)

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Purpose: Alagille 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. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The 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). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

#Alagille syndrome #Cardiovascular diseases #Pulmonary valve stenosis #Cholestasis

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이 논문의 저자 정보

Ahn, Kyung Jin

소속기관 Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University C

주요연구분야 의약학 > 임상의학 > 소아과학

논문수 2 이용수 2

Yoon, Ja Kyoung

소속기관 Department of Pediatrics, Sejong General Hospital

주요연구분야 의약학 > 임상의학 > 소아과학

논문수 3 이용수 2

김기범

소속기관 Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University C

주요연구분야 의약학 > 기타 의약학 의약학 > 임상의학 > 소아과학

논문수 12 이용수 36

Kwon, Bo Sang