Alagille syndrome
Alagille
syndrome • Alagille syndrome with pulmonary hypertension - Ganzer Fall bei Radiopaedia
Alagille
syndrome • Alagille syndrome - Ganzer Fall bei Radiopaedia
Alagille
syndrome • Renal anomalies in Alagille syndrome - Ganzer Fall bei Radiopaedia
Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.
Clinical presentation
Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.
Genetics
Alagille syndrome is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located on the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients .
Pathology
The spectrum of disease in Alagille syndrome is diverse:
- hepatic
- paucity +/- stenoses of intrahepatic bile ducts that can eventually lead to cirrhosis and hepatic failure
- renal
- variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis
- ocular
- posterior embryotoxon
- otic
- hypoplasia of the posterior semicircular canal
- skeletal
- butterfly type vertebrae (~50%)
- facial
- triangular facial
- cardiovascular
- coarctation of the aorta (rare)
- peripheral pulmonary artery stenosis
History and etymology
Named after Daniel Alagille, a French pediatrician (1925-2005) who first described it .
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Alagille-Syndrom:
