title: Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation.
abstract: Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation: Alagille syndrome is an autosomal dominant disorder involving liver, heart, eyes, face, skeleton, and other organs. Various renal abnormalities have also been associated with Alagille syndrome, whereas renal vascular hypertension combined with renal insufficiency has been reported in several cases. We describe a patient with a novel frameshift mutation (c.1880_1881insA) in the JAG1 gene who presented with chronic renal failure and hypertension but without evidence of renal vascular or aortic stenosis. The patient's chronic renal failure had persisted for several years. His high blood pressure seemed to be due to renal parenchymal changes and was treated with ACE-inhibitors without worsening his renal function. This novel JAG1 mutation revealed great variability of the phenotype. The patient's daughter suffered from severe paucity of intrahepatic bile ducts and received a liver transplant at the age of two years. These findings are discussed including a review of the literature.
authors: Department of Nephrology, University Hospital Hamburg-Eppendorf, Hamburg, Germany. harendza@uke.uni-hamburg.de
authors: Sigrid
authors: S
authors: Harendza
authors: Christian A
authors: CA
authors: Hübner
authors: Christiane
authors: C
authors: Gläser
authors: Martin
authors: M
authors: Burdelski
authors: Friedrich
authors: F
authors: Thaiss
authors: Ingo
authors: I
authors: Hansmann
authors: Andreas
authors: A
authors: Gal
authors: Rolf A K
authors: RA
authors: Stahl
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000150:complications / Q000235:genetics; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000627:therapeutic use; D001794:Blood Pressure / Q000502:physiology; D002135:Calcium-Binding Proteins; D005500:Follow-Up Studies; D016368:Frameshift Mutation; D006801:Humans; D006977:Hypertension, Renal / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D036341:Intercellular Signaling Peptides and Proteins; D000072100:Jagged-1 Protein; D007676:Kidney Failure, Chronic / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012079:Renal Circulation; D000072099:Serrate-Jagged Proteins; D018616:Ultrasonography, Doppler, Duplex
chemical_list: D000806:Angiotensin-Converting Enzyme Inhibitors; D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins