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Alagille syndrome

Dr Yuranga Weerakkody et al.

The Alagille syndrome (AGS) is a congenital genetic multi system disorder

Clinical presentation

Infants typically present with symptoms relating to the liver where is it one of the commonest causes of hereditary cholestasis.

Genetics

It is inherited in an autosomal fashion with a mutation in the Jagged 1gene located in the short arm of chromosome 20.

Pathological spectrum

hepatic
- paucity + / - stenoses of intrahepatic bile ducts : which can eventually lead to liver cirrhosis and hepatic failure ⁴
renal
- variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis ⁵.
ocular
- posterior embryotoxon
skeletal
- butterfly type vertebrae
facial
- triangular facies
cardiovascular
- coarctation of the aorta ¹ (rare)
- peripheral pulmonary artery stenosis

Etymology

Named after Daniel Alagille : French paediatrician (1925 - )

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