An Adult Patient with Alagille Syndrome Showing Mainly Renal Failure and Vascular Abnormality without Liver Manifestation

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  • Shimohata Homare
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Imagawa Kazuo
    Department of Pediatrics, University of Tsukuba Hospital, Japan
  • Yamashita Marina
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Ohgi Kentaro
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Maruyama Hiroshi
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Takayasu Mamiko
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Hirayama Kouichi
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan
  • Kobayashi Masaki
    Department of Nephrology, Tokyo Medical University Ibaraki Medical Center, Japan

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<p>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. </p>

Journal

  • Internal Medicine

    Internal Medicine 59 (22), 2907-2910, 2020-11-15

    The Japanese Society of Internal Medicine

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