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Alagille Syndrome
Conference Roundup

Genetic testing has lasting implications for families of patients with rare diseases

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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%.

Reference
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.

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