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Abstract
Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who presented with chronic renal failure. In this family, five members of three generations had clinical features implicated in AGS. Three members had adult-onset renal dysfunction with proteinuria, and two of them required haemodialysis therapy. AGS should be considered in the differential diagnosis of proteinuric renal disease, even in adult patients.
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Details
1 Division of Nephrology, Kanazawa Medical University, Uchinada, Ishikawa, Japan
2 Department of Pathology and Laboratory Medicine, Kanazawa Medical University, Uchinada, Ishikawa, Japan
3 Center for Medical Genetics, Kanazawa Medical University, Uchinada, Ishikawa, Japan