Alagille syndrome: A nutritional niche for Notch  

Oleh:

Sokol, Ronald J.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The Journal of Pediatrics vol. 135 no. 02 (Feb. 1999), page 136-138.
Topik: AGS ; Alagille syndrome

Ketersediaan

Perpustakaan FK Nomor Panggil: J45.K.1999.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

In 1975 Daniel Alagille, a prominent pediatric hepatologist in France, first described in the English literature a group of children with chronic cholestatic liver disease that also exhibited a unique cluster of extrahepatic features. This disorder has since been labeled Alagille syndrome . The liver histology in these children uniformly showed a reduced number of portal tract bile ducts, now commonly referred to as paucity of interlobular bile ducts, usually associated with a hypoplastic extrahepatic biliary tree. The other major features of AGS include pulmonary artery and valve abnormalities (including tetralogy of Fallot), vertebral arch defects, posterior embryotoxon, and characteristic facies. AGS is inherited in an autosomal dominant manner with incomplete penetrance. Subsequent reports have extended the clinical phenotype to include growth and developmental delays, renal abnormalities, pancreatic insufficiency, and a relatively high frequency of intracranial hemorrhage. AGS is estimated to occur in 1 of 70,000 live births among all ethnic groups, putting it among the 5 most common causes of chronic childhood cholestasis. The clinical criteria for diagnosis set forth by Alagille et al2 include paucity of interlobular bile ducts plus 3 of the 5 other major criteria (cardiac and pulmonary artery abnormalities, vertebral arch defects, posterior embryotoxon, characteristic facies, and chronic cholestasis). Clearly, many family members of known patients demonstrate several of these features (eg, isolated congenital heart or pulmonary artery anomalies), and some patients do not fulfill all criteria, yet are suspected of having AGS. Furthermore, there is considerable concern for recurrence in future pregnancies for families with a severely affected infant. Thus the need for improved diagnostic testing and a better understanding of the pathogenesis of AGS led several groups to search for the AGS gene.

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