Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation
Homare ShimohataKazuo ImagawaMarina YamashitaKentaro OhgiHiroshi MaruyamaMamiko TakayasuKouichi HirayamaMasaki Kobayashi
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JOURNAL OPEN ACCESS

2020 Volume 59 Issue 22 Pages 2907-2910

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Abstract

Alagille syndrome is an inherited multisystemic disorder. We herein report an atypical case of a Japanese adult patient with Alagille syndrome. He had been diagnosed with Alagille syndrome as an infant based on a liver biopsy. At 27 years of age, he needed to start hemodialysis therapy, but an arteriovenous fistula was not created because his peripheral blood vessels were too narrow. He also had a recurrent brain infarction due to cerebral vascular stenosis. Alagille syndrome is generally recognized as a pediatric hepatic disease, but general physicians should be aware of its potential existence with renal involvement and vascular abnormalities.

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© 2020 by The Japanese Society of Internal Medicine
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