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Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.

Hayashi N, Okuyama H, Matsui Y, Yamaya H, Kinoshita E, Minato H, Niida Y, Yokoyama H - Clin Kidney J (2013)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.

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.

No MeSH data available.


Related in: MedlinePlus

Father's renal specimen at autopsy. (a) Pericapsular fibrosis and segmental sclerosis of glomeruli were found (Azan ×400). (b) Some residual glomeruli showed glomerulomegaly (Azan ×400). (c) Severe fibrous intimal thickening of arteries was found (Azan ×100).
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SFT027F5: Father's renal specimen at autopsy. (a) Pericapsular fibrosis and segmental sclerosis of glomeruli were found (Azan ×400). (b) Some residual glomeruli showed glomerulomegaly (Azan ×400). (c) Severe fibrous intimal thickening of arteries was found (Azan ×100).

Mentions: There was a relevant family history (Table 1). His father had proteinuria from the age of 30 years. At the age of 45 years, he was referred to our hospital because of severe hypertension and leg oedema, and was diagnosed with chronic renal failure. Six months later, he commenced haemodialysis. At the age of 51 years, he died suddenly after dialysis. Autopsy revealed liver cirrhosis without bile duct paucity, ASD, PS and anomalous origin of renal arteries with pericapsular fibrosis of glomeruli, severe arteriosclerosis and advanced interstitial fibrosis (Figure 5). The younger brother of the patient was found to have proteinuria for the first time at the age of 36 years. Renal dysfunction progressed over several years.Table 1.


Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.

Hayashi N, Okuyama H, Matsui Y, Yamaya H, Kinoshita E, Minato H, Niida Y, Yokoyama H - Clin Kidney J (2013)

Father's renal specimen at autopsy. (a) Pericapsular fibrosis and segmental sclerosis of glomeruli were found (Azan ×400). (b) Some residual glomeruli showed glomerulomegaly (Azan ×400). (c) Severe fibrous intimal thickening of arteries was found (Azan ×100).
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4400474&req=5

SFT027F5: Father's renal specimen at autopsy. (a) Pericapsular fibrosis and segmental sclerosis of glomeruli were found (Azan ×400). (b) Some residual glomeruli showed glomerulomegaly (Azan ×400). (c) Severe fibrous intimal thickening of arteries was found (Azan ×100).
Mentions: There was a relevant family history (Table 1). His father had proteinuria from the age of 30 years. At the age of 45 years, he was referred to our hospital because of severe hypertension and leg oedema, and was diagnosed with chronic renal failure. Six months later, he commenced haemodialysis. At the age of 51 years, he died suddenly after dialysis. Autopsy revealed liver cirrhosis without bile duct paucity, ASD, PS and anomalous origin of renal arteries with pericapsular fibrosis of glomeruli, severe arteriosclerosis and advanced interstitial fibrosis (Figure 5). The younger brother of the patient was found to have proteinuria for the first time at the age of 36 years. Renal dysfunction progressed over several years.Table 1.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Nephrology , Kanazawa Medical University , Uchinada, Ishikawa , Japan.

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.

No MeSH data available.


Related in: MedlinePlus