Talk:Alagille Syndrome: Difference between revisions
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==2015== | ==2015== | ||
===Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome=== | |||
Pediatr Int. 2015 Feb 13. doi: 10.1111/ped.12602. [Epub ahead of print] | |||
Cho JM1, Oh SH, Kim HJ, Kim JS, Kim KM, Kim GH, Yu E, Lee BH, Yoo HW. | |||
Abstract | |||
BACKGROUND: | |||
Alagille syndrome (AGS) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS is caused by mutations in one of two genes, JAG1 or NOTCH2. We evaluated clinical features, outcomes, and the presence of JAG1 and NOTCH2 mutations in Korean children with AGS. | |||
PATIENTS AND METHODS: | |||
Between January 1997 and December 2013, 19 children were diagnosed with AGS at Asan Medical Center, Seoul, Korea. Their clinical features, outcomes, and JAG1 and NOTCH2 mutation status were retrospectively analyzed. | |||
RESULTS: | |||
The prevalence of clinical features in the 19 patients is as follows: Dysmorphic facial features, 100% (n=19); liver symptoms, 89% (n=17); cardiac symptoms, 95% (n=18); ophthalmologic symptoms, 67% (n=10); skeletal deformities, 47% (n=9); and renal symptoms, 21% (n=4). JAG1 mutations were identified in 14 patients. The thirteen different JAG1 mutations, seven of which were novel, included four deletions, three insertions, two missense mutations, three nonsense mutations, and one indel mutation. No NOTCH2 mutations were found. Two patients who received liver transplantation due to liver failure are still alive. Two patients died of comorbidities related to AGS, one of cardiac failure and one of hepatic failure. | |||
CONCLUSION: | |||
This study reports the clinical characteristics of 19 Korean AGS patients with seven novel JAG1 mutations. Neonatal cholestatic jaundice was the most common initial presenting symptom; thus the presence of neonatal cholestasis warrants screening patients for syndromic features of AGS. Complex heart anomalies and progressive liver dysfunctions have resulted in significant morbidity and mortality in AGS. | |||
This article is protected by copyright. All rights reserved. | |||
KEYWORDS: | |||
treatment outcome; Alagille syndrome; Jagged 1; Notch2 receptor; cholestasis | |||
PMID 25676721 | |||
==2014== | ==2014== | ||
Revision as of 18:09, 21 February 2015
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Cite this page: Hill, M.A. (2024, April 19) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Alagille_Syndrome |
2015
Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome
Pediatr Int. 2015 Feb 13. doi: 10.1111/ped.12602. [Epub ahead of print]
Cho JM1, Oh SH, Kim HJ, Kim JS, Kim KM, Kim GH, Yu E, Lee BH, Yoo HW.
Abstract
BACKGROUND: Alagille syndrome (AGS) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS is caused by mutations in one of two genes, JAG1 or NOTCH2. We evaluated clinical features, outcomes, and the presence of JAG1 and NOTCH2 mutations in Korean children with AGS. PATIENTS AND METHODS: Between January 1997 and December 2013, 19 children were diagnosed with AGS at Asan Medical Center, Seoul, Korea. Their clinical features, outcomes, and JAG1 and NOTCH2 mutation status were retrospectively analyzed. RESULTS: The prevalence of clinical features in the 19 patients is as follows: Dysmorphic facial features, 100% (n=19); liver symptoms, 89% (n=17); cardiac symptoms, 95% (n=18); ophthalmologic symptoms, 67% (n=10); skeletal deformities, 47% (n=9); and renal symptoms, 21% (n=4). JAG1 mutations were identified in 14 patients. The thirteen different JAG1 mutations, seven of which were novel, included four deletions, three insertions, two missense mutations, three nonsense mutations, and one indel mutation. No NOTCH2 mutations were found. Two patients who received liver transplantation due to liver failure are still alive. Two patients died of comorbidities related to AGS, one of cardiac failure and one of hepatic failure. CONCLUSION: This study reports the clinical characteristics of 19 Korean AGS patients with seven novel JAG1 mutations. Neonatal cholestatic jaundice was the most common initial presenting symptom; thus the presence of neonatal cholestasis warrants screening patients for syndromic features of AGS. Complex heart anomalies and progressive liver dysfunctions have resulted in significant morbidity and mortality in AGS. This article is protected by copyright. All rights reserved. KEYWORDS: treatment outcome; Alagille syndrome; Jagged 1; Notch2 receptor; cholestasis
PMID 25676721
