Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.


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PMID (PMCID)
16013021
MALE Adult
Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.
Harendza S, Hubner CA, Glaser C, Burdelski M, Thaiss F, Hansmann I, Gal A, Stahl RA.
J Nephrol. 2005;18(3):312-7.
Various renal abnormalities have also been associated with Alagille syndrome, whereas renal vascular hypertension combined with renal insufficiency has been reported in several cases.