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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Clin+Kidney+J
2013 ; 6
(3
): 295-9
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Adult-onset renal failure in a family with Alagille syndrome with proteinuria and
a novel JAG1 mutation
#MMPMID26064488
Hayashi N
; Okuyama H
; Matsui Y
; Yamaya H
; Kinoshita E
; Minato H
; Niida Y
; Yokoyama H
Clin Kidney J
2013[Jun]; 6
(3
): 295-9
PMID26064488
show 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.