All issues > Volume 49(10); 2006

Original Article

Korean J Pediatr. 2006;49(10):1067-1072. Published online October 15, 2006.

A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene

Jee Youn JY Shin¹, You Jeong YJ Kim¹, Jeong Kee JK Seo¹

¹Department of Pediatrics, Collage of Medicine, Seoul National University Seoul, Korea

Correspondence Jeong Kee JK Seo ,Email: jkseo@snu.ac.kr

Abstract

Purpose
: The purpose of this study was to examine the clinical courses and long-term outcomes of children with Allagille syndrome in Korea, and to evaluate the prognostic potentials of identified variables.
Methods
: We reviewed the clinical manifestations and outcomes of 30 children with Alagille syndrome, investigated from 1984 to 2006 until the end of this study (defined as death or last visit; mean follow-up : 5 years).
Results
: Cholestasis occurred in 100 percent, cardiovascular abnormalities in 83.3 percent, butterfly vertebrae in 30.0 percent, posterior embryotoxon in 43.3 percent, and a characteristic facial appearance in 100 percent. At study conclusion, of these 30 patients, eight had died (26.7 percent); six related to Alagille syndrome. Five patients died of a liver disease complication. Liver transplantation was carried out in five of the 30 patients (16.7 percent) and one of these died due to hyperacute rejection. At age two, cholestasis improved in 17 of the 30 patients. Those who had severe cholestasis at 2 years of age tended to have a complication, such as liver cirrhosis or liver transplantation, or to have died.
Conclusion
: Hepatic complications account for the most mortalities in patients with Alagille syndrome. Careful and complete assessments should be made in children who have cholestasis at 2 years of age. Further investigations of more cases are required.

Keywords :Alagille syndrome , Chronic cholestasis