Genetic testing has lasting implications for families of patients with rare diseases
Genetic mutations are common in patients with Alagille syndrome (ALGS), leading to implications for family members when it comes to screening, particularly asymptomatic parents, according to a poster presented at 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition.
In this retrospective review of 26 children diagnosed with ALGS at a hospital in New Zealand over the course of 33 years, genetic testing was done on 62% of patients, of which 88% were JAG1 mutation-positive. Of the 20 patients who developed neonatal cholestasis, 17 underwent liver biopsy, with bile duct paucity found in 88%, fibrosis in 53%, and giant cell hepatitis in 35%.
Overall, 27% of patients underwent liver transplantation, with 1 patent dying post-transplantation; 62% of patients remain alive with native livers; and 3 patients died from congenital heart disease (CHD).
Extrahepatic manifestations included CHD in 96%, characteristic facies in 85%, skeletal anomalies in 54%, ocular findings in 46%, renal anomalies in 42%, and vascular anomalies in 15%.
Chin-Goh K, et al. Clinical characteristics of New Zealand children with Alagille Syndrome over three decades. Presented at: 6th World Congress of Paediatric Gastroenterology, Hepatology and Nutrition.