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Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Clin+Kidney+J 2013 ; 6 (3): 295-9 Nephropedia Template TP
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Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation #MMPMID26064488
Clin Kidney J 2013[Jun]; 6 (3): 295-9 PMID26064488show ga
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.